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Human Biology

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Human Biology p 1
Human Biology p 1

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Human Biology (BIO 102)

Academic Year 2013-2014 Credit Hours: (3 hrs / week theory & 2 Hour/ week Lab)

Human Biology II Course Outline

Week

Professor / Lecturer / Instructor

Topics/Skills Covered

Week 1

Prof. Dr. Ali, Dr. Nazia, Mrs. Asmaa

Skeletal system

Week 2

 

Muscular system

Week 3

 

Respiratory system

Week 4

 

Urinary system

Week 5

 

Human reproductive system

Week 6

 

Macromolecules and enzymes

Week 7

 

Pathogens and infectious diseases

Week 8

 

Pathogens and infectious diseases

Week 9

 

Molecular Biology

Week 10

 

Molecular Biology

Week 11

 

Chromosomes and genes

Week 12

 

Basics of genetics and genetic diseases

Week 13

 

Cancer Biology

Week 14

 

Cancer Biology

Week 15

 

Cancer Biology

Week 16

 

Questions and answers

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Teaching Staff:

Dr. Ali Mohamed Eldib: PhD & Professor of Biology-Head of FAST

Dr. Bibi Nazia Murtaza: PhD & Assistant Professor -Coordinator of Biology

Mrs. Rehana Imtiaz: M Phil & Biology Lab. Instructor

Mrs. Noreen Javed: M Sc & Biology Lab. Instructor

Mrs. Asmaa: M Sc & Biology Lecturer

Mrs. Wegdan Bokhari: M Sc & biology Lecturer

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Content

Table of contents

Page No.

Skeletal system

05

Muscular system

13

Respiratory system

23

Urinary system

37

Human reproductive system

46

Macromolecules and Enzymes

62

Pathogens and infectious diseases

76

Molecular Biology

97

Chromosomes and genes

110

Basics of genetics and genetic diseases

119

Cancer Biology

129

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The Skeletal System

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The Skeletal System

Introduction:

The skeletal system includes connective tissues such as bone, cartilage, tendons, and ligaments. These tissues are combined with the various types of muscle tissue to form the Musculoskeletal System. Bones work together with muscles as simple mechanical lever systems to produce body movement.

The primary organs of the skeletal systems are the bones. They lie buried within the muscles and other soft tissue, providing a rigid framework and support structure for the whole body. Bones are living organs that they can remodel themselves and help the body respond to a changing environment. Bones contain more calcium than any other organ. The intercellular matrix of bone contains large amounts of calcium salts, the most important being calcium phosphate.

The intercellular matrix of bone contains large amounts of calcium salts, the most important being calcium

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Functions of the skeletal system

1. Support: Bones form the body‘s supporting framework.

2. Protection: The skull protects the brain, the breastbone and ribs protect vital organs

and vital tissue such as heart, lungs and red bone marrow.

3. Movement:

Muscles

are

anchored

firmly to

bones.

they pull on bones and thereby move them.

As

muscles

contract

and

shorten,

4. Storage: Bones play an important part in maintaining homeostasis of blood calcium,

(a

vital

substance

for

normal

nerve

and

muscle

function).

When

the

amount

of

calcium

in

blood

increases

above

normal,

calcium

moves

out

of

the

blood

and

the

bones for storage.

5. Hemopoiesis: is the process of blood cell formation. Blood cell formation is a vital

process carried on in the red bone marrow. Red bone marrow is soft connective

tissue inside the hard walls of some bones.

Division of skeleton

The human has two divisions: The axial skeleton and the appendicular skeleton. The

bones of the center or axis of the body make up the axial skeleton. The bones of the

skull, spine (vertebral column), and chest and the hyoid bone in the neck are all in the

axial skeleton. The bones of the upper and lower extremities make up the

appendicular skeleton.

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Bones of the Human Body: This system has 206 bones and associated cartilage, tendons and

Bones of the Human Body: This system has 206 bones and associated cartilage, tendons and ligaments.

Because bone is rigid, it gives the body a framework, maintains its shape, and protects vital organs.

Shape of Bones

There are 4 types of bones based on shape:

1. Long: e.g. humerus or upper arm bone.

2. Short: e.g. wrist bones

3. Flat: e.g. frontal or skull bone.

4. Irregular: e.g. vertebrae of spinal bones.

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Two basic types of bone tissue related to structure: Compact bone , and Spongy bone

Two basic types of bone tissue related to structure:

Compact bone, and Spongy bone.

The two types differ in density, or how tightly the tissue is packed together.

Compact bone consists of closely packed osteons or Haversian systems, while spongy bone is lighter and less dense than compact bone.

The spongy bone has irregular cavities that contain bone marrow.

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bone is lighter and less dense than compact bone. The spongy bone has irregular cavities that

Cells of the bones: There are three types of cells that contribute to bone homeostasis.

Osteoblasts are bone-forming cells. They secrete bone matrix element and help in depositing calcium in the bone

Osteoclasts are bone destroying cells. They resorb or break down bone.

Osteocytes are mature bone cells.

―Equilibrium between osteoblasts and osteoclasts maintains bone tissue‖.

Structure of long bones:

The names of the main parts of a long bone:

Diaphysis: or shaft- a hollow tube made of hard,

compact bone.

Medullary cavity: the hollow area inside the diaphysis

of a bone contains soft yellow bone marrow.

Epiphysis: or the ends of the bone- red bone marrow

fills in small spaces in the spongy bone composing the

epiphyses

Articular cartilage: a thin layer of cartilage covering

each epiphysis; functions like a small rubber cushion

Periosteum: a strong fibrous membrane covering a long

bone except at joint surfaces. Endosteum: a fibrous

membrane that lines the medullary cavity.

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Microscopic structure of bone:

The skeletal system contains two major types of connective tissue:

Bone and Cartilage. The outer layer of bone is hard and dense.

Bone of this type is called dense or compact bone.

The porous bone in the end of

the long bone is called spongy bone.

Compact or dense bone does not

contain a network of open spaces. Instead, the matrix is organized into numerous structural units called Osteons or Haversian systems.

Each circular and tube like osteon is composed of calcified matrix arranged in multiple layers resembling the rings of onion. Each ring is called a concentric lamella. The lamellae surround the central canal, which contains a blood vessel.

Within the hard matrix of bones are many living bone cells called osteocytes. Osteocytes lie between the hard layers of the lamellae in little spaces called lacunae.

Tiny passageways or canals called canaliculi connect the lacunae with one other and with central canal in each Haversian system.

Nutrients pass from blood vessels in Haversian canal through the canaliculi to the osteocytes.

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system.  Nutrients pass from blood vessels in Haversian canal through the canaliculi to the osteocytes.

Most bones of the body are formed from cartilage. The laying down of calcium salts in the gel- like matrix of the forming bones makes bones hard. Bones grow in length at the epiphyseal plate. The cartilage in the region of the epiphyseal plate next to the epiphysis continues to grow by mitosis. Osteoblasts move in and ossify the matrix to form bone. This process continues throughout childhood and the adolescent years until the cartilage growth slows and finally stops. When cartilage growth ceases, usually in the early twenties, the epiphyseal plate completely ossifies so that only a thin epiphyseal line remains and the bones can no longer grow in length.

Bone growth is under the influence of growth hormone from the anterior pituitary gland and sex hormones from the ovaries and testes.

Joints (Articulations)

Every bone in the body (except one: the hyoid bone in the neck), connects to at least

one other bone. Joints hold our bones together securely and at the same time make it

possible for movement to occur between the bones.

Kinds of joints: joints are classified according to the degree of movement they allow:

(no movement like the joints between cranial bones, slight movement like the joints

between the bones of the vertebrae, and free movement like most joints in the

appendicular skeleton). Joints are also classified according to structure:

Fibrous joints (Generally immovable), Cartilaginous joints (Immovable or slightly moveable), Synovial joints (Freely moveable).

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The Muscular System

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The Muscular System

Introduction:

The muscular system moves the bony framework of the body.

The muscular system is often referred to as the musculoskeletal system

because without the muscles, the bones would not be able to move, and,

without the bones, the muscles would lack support.

Main organs of the muscular system are the muscles (Cardiac-smooth or

skeletal). Muscular system has connective tissue such as tendons and

connective sheaths, blood vessels and nerves.

Characteristics of muscle tissue:

There are four characteristics associated with muscle tissue:

1. Excitability: Muscle responds to electrical stimulation from nerve impulses.

responds to electrical stimulation from nerve impulses. 2. Contractility: Muscle responds to stimuli by

2. Contractility: Muscle responds to stimuli by contracting lengthwise, or shortening.

3. Extensibility: Muscle can be stretched up to 30% of its resting length.

4. Elasticity: After contracting or lengthening, tissue always can return to its resting state.

Functions of Skeletal Muscles:

Maintain posture and body position: Skeletal muscles maintain posture, stabilize the joints and support viscera.

Support soft tissue: Support weight of visceral organs.

Guard entrances and exits in internal organs: Muscles encircle the openings to digestive and urinary tracts, called sphincters. They control swallowing, defecation and urination.

Maintain body temperature: Muscle metabolism produces. Energy from contraction is converted to heat.

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Produce movement: The primary function of skeletal muscle in the body is movement. Muscle pulls tendons the skeleton.

Types of Muscles:

Skeletal, Cardiac and Smooth Muscles

The body contains 3 types of muscle tissue. The differences in these types of muscle are due to their microscopic structure, their location in the body and their function and how their functions are controlled; either voluntary or involuntary.

functions are controlled; either voluntary or involuntary. a. Skeletal muscles: Muscles attached to skeleton. They

a. Skeletal muscles:

Muscles attached to skeleton. They provide the means by which the body can move. Skeletal muscles are voluntary muscles that contract and relax in response to conscious thought. Skeletal Muscle cells or fibers are striated (striped) with multiple nuclei; are arranged as many, long, cylindrical cells bundled together. They are responsible for voluntary movement, and are generally connected to the bones via tendons.

b. Cardiac muscle:

connected to the bones via tendons. b. Cardiac muscle: It is found only in the wall

It is found only in the wall of the heart and has the unique property of auto- rythmicity. It pumps blood through the circulatory system. (Makes up myocardium of heart)

Cardiac muscle fibers are also striated and have intercalated discs that help hold adjacent cells together and transmit the force of contraction from cell to cell. Their contraction is involuntary and has intrinsic stimulation.

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c. Smooth muscles:

They make up walls of internal organs and blood vessels (tubular organs of the GI tract,

reproductive, urinary and

respiratory systems). The

smooth muscle fibers are

short, spindle shaped non-

striated and contain a single

nucleus. These muscles are

under automatic control, they

are involuntary.

muscles are under automatic control, they are involuntary. Smooth muscles decrease the diameter of blood vessels

Smooth muscles decrease the diameter of blood vessels and propel food through the stomach and intestines, help in respiration.

Skeletal muscles

the diameter of blood vessels and propel food through the stomach and intestines, help in respiration.

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Anatomy of the skeletal Muscular System:

Each muscle is wrapped in fascia, a thin, connective tissue that also joins to the tendon.

a thin, connective tissue that also joins to the tendon. Muscle attachments: Every muscle has at

Muscle attachments:

Every muscle has at least one point of origin on a stationary bone and an insertion on a bone that moves when the muscle contracts.

Tendon: Is dense connective tissue that attaches muscle to bone.

Origin: The less movable attachment of the muscle is called the origin.

Insertion: The more movable bony attachment of the muscle is called the insertion.

Agonist: A muscle that contracts to create the desired action is known as an agonist or prime mover.

Synergist: A muscle that helps the agonist is a synergist.

Synergist : A muscle that helps the agonist is a synergist. Antagonist : A muscle that

Antagonist: A muscle that opposes the action of the agonist, therefore undoing the desired action is an antagonist.

Skeletal muscles work in opposition:

The biceps and triceps muscles of the arm work in opposition: to move the forelimb

up or down. Contraction of the biceps, together with relaxation of the triceps, pulls the

forelimb up. Contraction of the triceps and relaxation of the biceps pull it down.

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Functional Organization of Skeletal Muscle: 18

Functional Organization of Skeletal Muscle:

Functional Organization of Skeletal Muscle: 18

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Microanatomy of a skeletal Muscle Fiber (Cell)

Skeletal Muscle tissue consists of specialized contractile cells called muscle fibers.

Muscle tissue consists of specialized contractile cells called muscle fibers grouped into bundles.

A muscle fiber is a single, multinucleated muscle cell.

A

up of

hundreds or even thousands of muscle fibers, depending

on the muscles size.

muscle

is

made

Although muscle fiber makes up most of the muscle tissue,

amount of

connective tissue, blood vessels, and nerves are also present.

a large

The health of muscle depends

on

skeletal

muscle has a nerve ending that

and

blood

a

sufficient

supply.

nerve

Each

controls

its

activity

(innervation),

and

an

individual

system

to

supply

and

drain

blood

(vascularization).

Connective tissue covers and supports each muscle fiber

and reinforces the muscle

as a whole.

(vascularization).  Connective tissue covers and supports each muscle fiber and reinforces the muscle as a

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Microscopic structure of skeletal muscle fiber

Skeletal muscle is surrounded by connective membrane called epimysium. Skeletal muscle contains muscle fascicles which are bundles of muscle fibers.

Each muscle fascicle is surrounded by perimysium membrane and contains hundreds of muscle fibers.

perimysium membrane and contains hundreds of muscle fibers. Muscle fiber is an elongated cell surrounded by

Muscle fiber is an elongated cell surrounded by Endomysium. Sarcolemma is the plasma membrane of muscle fiber.

Muscle fiber has cylindrical organelles called myofibrils.

Myofibrils are bundles of filaments that run from one end of the cell to the other and are attached to the cell surface membrane at each end.

The filaments of myofibrils consist of two types: thick and thin filaments.

Thin filaments consist of the protein actin. Thick filaments consist of the protein myosin.

Interaction between thick and thin filaments causes contraction. When myofibrils contracts, the whole cell contracts.

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Sarcomere

Sarcomere: is the smallest functional unit of muscle fiber. Each myofibril contains 10,000 sarcomeres end to end. Sarcomere is made up of repeated units of myofilaments arranged in parallel lines. Myosin and Actin myofilaments are arranged to form overlapping patterns, which are responsible for the light and dark bands (striations) that can be seen in skeletal muscle.

patterns, which are responsible for the light and dark bands (striations) that can be seen in
patterns, which are responsible for the light and dark bands (striations) that can be seen in

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Myosin ―pulls‖ on actin, causing thin myofilaments to slide across thick myofilaments, towards the center of the sarcomere (sliding filament theory).

Physiology of skeletal muscle contraction

Skeletal muscles require stimulation from nervous system in order to contract.

Motor neurons are the cells that cause muscle fibers to contract.

neurons are the cells that cause muscle fibers to contract. Once an action potential (AP) is

Once an action potential (AP) is generated at the motor end plate it will spread like an electrical current along the sarcolemma of muscle fiber. The sarcoplasmic reticulum is a specialized endoplasmic reticulum that stores and releases calcium ions needed for muscle contraction.

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The Respiratory System

23

The Respiratory System

The Respiratory System 24

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Introduction

Respiratory System

The respiratory system is the system that makes you breath in and out, resulting in gas exchange. That means take oxygen from air into the body and remove carbon dioxide from it.

Functions of respiratory systems

Breathing: is the movement of air in and out of the lungs. It includes the mechanical processes of inhaling and exhaling.

o

Inhalation (inspiration) draw gases into the lung.

o

Exhalation (expiration) forces gases out of the lung.

Air conditioning: as air passes through the upper respiratory tract it get

warmed to body temperature, humidified, and cleaned of particulate matter.

Gas Exchange: it provides oxygen to the blood and removes carbon dioxide.

Production of sound: it enables sound production as expired air passes over the vocal cords.

Site for olfactory sensation: the olfactory epithelium in the upper medial portion of the nasal cavity is concerned with smell.

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Structure of respiratory system

The respiratory system includes

The conducting division which include all structures except pulmonary alveoli The respiratory division which includes the pulmonary alveoli where gas exchange occur between air and blood capillary

1. Respiratory tract

a. Upper respiratory tract (nose, pharynx, and larynx)

b. Lower respiratory tract (trachea and lungs including bronchi,

bronchioles and pulmonary alveoli)

2. Accessory organs of respiration

a. Diaphragm

b. Intercostals muscle

Respiratory mucosa

It‘s the membrane that lines most of the system. It is mostly made of pseudo stratified columnar epithelium, containing goblet cells. It secretes mucous to

clean all respiratory tubes with the help of cilia. Any dust, insects, pollen etc enter that tract get caught by the protective mucous secretion that cover large part of the membrane and

expelled by millions of cilia that covers respiratory mucosa.

secretion that cover large part of the membrane and expelled by millions of cilia that covers

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Respiratory Tract: Upper Respiratory Tract and lower respiratory tract

Upper respiratory tract: Nasal cavity, pharynx and larynx

Upper respiratory tract: Nasal cavity, pharynx and larynx Function :  Passageway for respiration  Receptors

Function:

Passageway for respiration

Receptors for smell (Olfactory epithelium)

Filters incoming air to remove larger foreign material

Moistens and warms incoming air

Resonating chambers for voice 1-Nose and nasal cavities Air enters respiratory system through nostrils (nasal opening) pass through 2 nasal cavities where it gets filtered, warmed and humidified; the 2 cavities are separated by nasal septum. Conchae: shelf like protrusions on each side of nasal cavities to increase surface area over which air pass through. Olfactory receptors: are the nerve ending responsible for sense of smell. Paranasal sinuses: hollow spaces help to lighten the skull, together with the nasal cavity they warm and moisten air, and serve as resonant chambers for the production of sound there are 4 pairs of them located in the frontal, sphenoid, ethmoid and maxillary bones

for the production of sound there are 4 pairs of them located in the frontal, sphenoid,

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2-Pharynx (throat) It is the first passage that air and food pass through to lungs and stomach respectively. Air enters pharynx through nose and leave it by the way of larynx. Food enters it through mouth and leaves through esophagus. Eustachian tube opens in nasopharynx serves to equalize pressure

between middle and external ear. Tonsils are masses of lymphatic tissue embedded in the mucous membrane of pharynx they serve as the first line of defense and provide immunity to the respiratory system.

of defense and provide immunity to the respiratory system. 3- Larynx (voice box ): Located just

3-Larynx (voice box):

Located just below pharynx it is composed of several pieces of cartilages the largest of this is thyroid cartilage, we call it (Adam’s apple). Two short fibrous bands (vocal cords) stretch across the interior of the larynx can pull these cords in a way they become tenser or relaxed producing different voice tones while air passes through them. The spaces between

cords is called glottis that is covered partially by epiglottis that acts like a door closing the larynx during swallowing to prevent food from entering trachea.

during swallowing to prevent food from entering trachea.  Lower respiratory tract: trachea and lungs including

Lower respiratory tract: trachea and lungs including bronchi, bronchioles and

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pulmonary alveoli . 1- Trachea It is the only tube that extends between the larynx and bronchi through which air can reach lungs warmed, and humidified. Trachea is lined with respiratory mucosa membrane (ciliated pseudostratified columnar epithelium). If its closed, we will choke, that‘s why it is made of C shaped rings of cartilages placed one above the other with only little soft tissue in between to secure constant opening of its lumen and prevent its collapse.

2- Bronchial tree

It includes the conducting zone and the respiratory zone. The conducting zone: extensively branching respiratory passage ways that

include the:

Primary bronchi (main bronchi)

Secondary bronchi

Tertiary bronchi

Bronchioles- little bronchi less than one mm in diameter

Terminal bronchioles- less than 0.5 mm in diameter

The tissue composition of the walls of the main bronchi mimics that of the trachea, but as the conducting tubes become smaller, elastic fibers replace the cartilage and the amount of smooth muscle in the tube walls increases. Cilia are spares, and mucous producing cells are absent in the bronchiole.

smooth muscle in the tube walls increases. Cilia are spares, and mucous producing cells are absent

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The respiratory zone: consist of air exchanging structures (Alveoli). The respiratory bronchioles (branch from terminal bronchioles), which lead to alveolar duct.

from terminal bronchioles), which lead to alveolar duct . 3. Alveolar ducts and alveoli are the

3. Alveolar ducts and alveoli are the functional units of respiratory system which are responsible for gas

exchange between air and blood. There are 300 million or so gas-filled alveoli in the lungs, each in contact

with blood vessels, so respiration takes place on that level.

blood vessels, so respiration takes place on that level. Respiratory membrane The membrane that separates the

Respiratory membrane The membrane that separates the air in the alveoli from the blood in surrounding capillaries is made of capillaries basement, alveolar basement membrane and the space in

between. Gas exchange occur by simple diffusion across the respiratory membrane (O 2 passes from the alveolus into blood and CO 2 leaves the blood to enter the gas filled alveolus) Alveolar macrophages crawl freely along the internal alveolar surfaces to remove air debris.

Surfactant: substance produced by alveolar cells to covers the respiratory

membrane. It lowers surface tension in alveoli and prevent them from

collapsing during respiration

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Lungs

The paired lungs occupy the entire thoracic cavity except the mediastinum. The two lungs differ slightly in shape and size because the apex of the heart is slightly to the left of the median plane. The lung consist largely of air spaces. These are mainly made up of elastic

connective tissue. As a result, the lung are soft, spongy and elastic organs. On the mediastinal surface of each lung is an indentation, the hilum, through which pulmonary and systemic blood vessels, bronchi, lymphatic vessels, and nerves enter and leave the lungs. Lungs provide the place where air and blood can exchange gases with air at alveolar level.

and blood can exchange gases with air at alveolar leve l. The pleura : covers the
and blood can exchange gases with air at alveolar leve l. The pleura : covers the

The pleura: covers the outer surface of both lungs and lines the inner surface of thoracic cage. It is a thin moist serous membrane that is composed of two parts: partial pleura (lines thoracic cage) visceral pleura (covers the lung). The inter pleural space lies between the two membranes; it contains little fluid to moist the two membranes making them slippery easily to glide on each other.

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Main accessory organs of respiration: (respiratory muscles) Diaphragm is the dome-shaped muscle separating thoracic cavity from abdominal cavity. During inspiration, the diaphragm contracts, it moves inferiorly and flattens out. As a result, the superior-inferior dimension of the thoracic cavity increases. Intercostals muscles are located between ribs. During inspiration, they contract and increase the size of the chest by increasing the

antro-posterior diameter (from front to back), so lungs expand in width.

diameter (from front to back), so lungs expand in width. Abdominal muscles also help in the

Abdominal muscles also help in the mechanism of respiration. The increase in the thoracic volume, allows air to flow into lungs down its pressure gradient. Of the two main types of inspiratory muscles, the diaphragm is far more important in producing the volume changes that lead to normal inspiration.

Mechanism of respiration (Inhalation and Exhalation)

Respiration: means exchange of gases (oxygen & carbon dioxide) between living organism and its environment In humans, lungs are responsible for this process as it provides the place where air and blood can come close enough to each other for gas

responsible for this process as it provides the place where air and blood can come close

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exchange.

Air enters nose then passes through pharynx, larynx then trachea, bronchi and bronchioles where it gets filtered and humidified through the whole tract. Then it passes through alveolar ducts to alveoli where O2 is delivered to the blood and waste gases (CO2) are collected. This process takes place through the extremely thin wall of alveoli and blood vessels

Breathing (pulmonary ventilation): movement of air into and out of lungs

Inspiration: Inhalation (taking in) air into the lungs is an active process occurs when thoracic cage enlarges, lungs expand and air rushes into them down to the alveoli. Dilatation of thoracic cage happens as result of contraction of respiratory muscles (diaphragm moves down toward abdominal cavity increasing longitudinal diameter and intercostals contracts increasing transverse diameter.)

Expiration: Exhalation (moving out) of air from the lungs is a passive process it happens when the respiratory muscle relaxes, the thoracic cavity returns to its original size, lungs recoil (decrease in size) as air leaves alveoli outward through respiratory passages.

Types of respiration:

1.

External respiration: gas exchange between air and blood at the level of

alveoli

2.

Internal respiration: gas exchange between blood and tissues

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3. Cellular respiration: actual use of oxygen by the cell in the process of

metabolism to produce ATP, carbon dioxide and water as waste.

External respiration (exchange of gases in lungs)

as waste. External respiration (exchange of gases in lungs) Blood pumps from the heart into the

Blood pumps from the heart into the pulmonary artery then flows through thousands of tiny lung capillaries that are in proximity to lung alveoli which provide the place where air and blood exchange gases. Oxygen has high concentration in alveolar air and low in capillaries. So by diffusion it will pass from area of high concentration (alveolar air) to the area of low concentration (capillary blood) where it will combine with hemoglobin in red blood cells. Then the blood carries it to the tissues where it is removed from blood and used by the cells.

CO 2 diffuses from high concentration in capillary blood to low concentration in alveolar air.

in capillary blood to low concentration in alveolar air. 1. Internal respiration: It is the gas

1. Internal respiration:

It is the gas exchange between blood and tissue. Also it occurs by diffusion

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2. Cellular respiration:

O 2 diffuse from the blood to the tissue where it is used by the cells then CO 2 that is produced from cellular respiration diffuses back to

blood capillaries. Cellular respiration occurs in the mitochondria.

Cellular respiration occurs in the mitochondria. Binding of hemoglobin with oxygen Hemoglobin (Hb) is a red
Cellular respiration occurs in the mitochondria. Binding of hemoglobin with oxygen Hemoglobin (Hb) is a red

Binding of hemoglobin with oxygen Hemoglobin (Hb) is a red pigment in RBCs. It is composed of 4 polypeptide chains, each bound to an iron containing heme group. The

name hemoglobin comes from the combination of Heme (iron part that unit with O 2 ) and globin (protein part). It units with O 2 and carries it to tissue, it can also carry small amount of CO 2 returning it to alveoli.

It units with O 2 and carries it to tissue, it can also carry small amount

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Regulation of respiration

Respiratory muscles are stimulated by respiratory control center located in the medulla, this center produces regular breathing pattern by sending regular impulses to muscles of respiration (diaphragm, intercostals muscles, muscles of the abdomen) to contract and relax accordingly.

muscles of the abdomen ) to contract and relax accordingly.  This center is stimulated by

This center is stimulated by

receptors that detect carbon dioxide, hydrogen ions and oxygen levels to increase or decrease frequency of

respiration.

Conscious control of respiration: higher centers (cerebral cortex) can control automatic respiration to increase its force (blowing balloon) or speed; make it fast, slow or hold it ( swimming and scuba diving)

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The Urinary System

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The Urinary System

The urinary system or renal system is the organ system that produces, stores, and eliminates urine.

It includes two kidneys, two ureters, the bladder and the urethra. The female and male urinary

systems are very similar, differing only in the length of the urethra.

In other words, the urinary system maintains the volume and composition of body fluids

(electrolyte, water, and acid-base balance) within normal limits. One aspect of this function is to

get rid the body of waste products that accumulate as a result of cellular metabolism so; it is

sometimes referred to as the excretory system.

T T T
T
T
T

The urinary system consists of the following structures:

Two kidneys: Filter blood to produce urine. Two ureters: conduct urine from kidneys to the urinary bladder. The urinary bladder: where urine is collected and temporarily stored.

The urethra: through which the urine is discharged from the

urinary bladder to outside the body.

Functions of the urinary system:

to outside the body. Functions of the urinary system: 1 . Excretion: Removal of metabolic waste

1. Excretion: Removal of metabolic waste products from the blood, such as nitrogen-containing

waste material (urea), excess salts and toxins.

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2. Maintenance of water balance: Although the amount of water gained and lost in a day can

vary, the kidneys can adapt to these variations, so that the volume of body water remains

remarkably stable.

3. Regulation of acid-base balance: If the body is to function normally, the pH of body fluids

must remain in the range of 7.35 to 7.45.

4. Regulation of blood pressure: The kidneys depend on blood pressure to filter blood. If blood

pressure falls too low for effective filtration, cells in the kidneys release renin; an enzyme that

activates angiotensin, a blood protein that causes blood vessels to constrict, thus raising blood

pressure.

5. Regulation of red blood cell production: When the kidneys do not get enough oxygen, they

produce the hormone erythropoietin (EPO), which stimulates the red cell production in the bone

marrow.

The kidneys:

GENERAL

ROLE:

The kidneys are organs that

serve

several essential regulatory roles. They also serve the body

as a natural filter of the blood, and remove wastes which are

diverted

to

the urinary

bladder.

In

producing urine,

the

kidneys excrete wastes such as urea and ammonium, and

they

are

also

of water, glucose,

responsible

for

and amino

the

re-absorption

acids.

glucose, responsible for and amino the re-absorption acids. The kidneys also produce hormones including calcitriol,

The

kidneys

also

produce hormones including calcitriol, erythropoietin, and the enzyme renin.

SHAPE: Kidneys are bean-shaped organs. A sheath of fibro-elastic renal fascia encloses the

kidney. In the adult, each kidney is approximately 3 cm thick, 6 cm wide and 12 cm long. The

ureter and renal vein leave the kidney, and the renal artery enters the kidney at the hilum.

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LOCATION: The kidneys lie on the posterior abdominal wall, one on each side of the vertebral

column, behind the peritoneum and below the diaphragm. The right kidney is usually slightly

lower than the left.

Blood supply to the kidney:

Blood is brought to the kidney through a branch of the aorta called the renal artery, it subdivides

into smaller and smaller branches which make contact with the functional unit of the kidney, the

nephron. Filtered blood leaves the kidney through the renal vein.

External Anatomy of Kidneys:

Renal capsule: surrounds each kidney

Renal artery and nerves enter and renal vein and

ureter exit kidneys at the hilum.

Internal Anatomy of Kidneys:

Renal cortex: Outer area

Renal medulla: Inner area

Renal pyramids projecting into a funnel space

called renal pelvis.

pyramids projecting into a funnel space called renal pelvis. • Medulla pyramids consists of numerous uriniferous

Medulla pyramids consists of numerous uriniferous tubules or nephrons, sites where urine is

formed.

Renal papilla: innermost end of a pyramid.

Renal pelvis: the tube that drains urine into the bladder.

Calyces: Cup-like structures that converge to form renal pelvis. Minor calyces collects urine

from individual renal pyramid

40

Anatomy of nephron (functional unit of kidney):

The Nephron is composed of two principle components: The renal corpuscle and the renal

tubule.

The renal corpuscle is subdivided into two parts:

Bowman’s capsule: the cup- shaped top of a nephron.

The renal tubule has 4 regions:

Proximal convoluted tubule.

Loop of Henle: consists of descending

tubule. • Loop of Henle: consists of descending and ascending limbs. • Distal convoluted tubule. •

and ascending limbs.

Distal convoluted tubule.

Collecting

tubule:

several

nephrons

join

collecting tubule or duct.

distal

tubules

of

to

form

a

single

The functions of nephron:

1- Filtration:

Most

filtration

occurs

in

the

glomerulus.

Blood pressure forces water, salt, glucose,

amino

acids,

and

urea

into

Bowman‘s

capsule. Proteins and bloo cells are too large

to cross the membrane; they remain in the

and urea into Bowman‘s capsule. Proteins and bloo cells are too large to cross the membrane;

41

Glomerulus: network of blood capillaries. High pressure is required to filter wastes from the blood

blood. The fluid that enters the renal tubules is called the filtrate.

2- Re-absorption:

As the filtrate flows through the renal tubule, most of the water and nutrients are reabsorbed into the

blood.

3- Tubular secretion:

Before the filtrate leaves the body as urine,

the

kidney

composition

makes

by

the

final

adjustments

in

process

of

tubular

secretion. In this process, kidneys regulate

the acid-base (pH) balance of body fluid by

the active secretion of hydrogen ions.

Hormone secretion:

the active secretion of hydrogen ions. Hormone secretion : In addition to removing wastes, your kidneys

In addition to removing wastes, your kidneys release three important hormones:

Erythropoietin or EPO, stimulates the bone marrow to make red blood cells

Renin, which regulates blood pressure

Calcitriol, the hormonally active form of vitamin D (D3), which helps maintain

calcium for bones and for normal chemical balance in the body.

The kidneys act as osmoregulators (Control of urine volume):

The kidneys, by helping to regulate the water or the salt concentration in the blood, are called

osmoregulators. This is an example of homeostasis.

The water potential of the blood depends on the amount of water and salts in the plasma. The

water content of the blood is controlled by vasopressin or anti-diuretic hormone (ADH). It is

produced by the posterior pituitary gland and increases water reabsorption by the kidney tubules.

42

ADH from pituitary causes kidneys to retain water by increasing reabsorption of water. ―ADH

is water retaining hormone‖ or ―urine decreasing hormone‖

Aldosterone, secreted by the adrenal cortex, and stimulated by renin secretion, promotes the

reabsorption of sodium ions, and water and the excretion of potassium ions therefore blood

volume and blood pressure increase.

Atrial natriuretic hormone (ANH), secreted from the heart‘s atrial wall, has the opposite

effect of aldosterone. ANH causes kidneys to excrete Sodium and water decreasing blood volume

and lowering blood pressure.

The Ureters:

Each ureter is a small tube, about 25 cm long that carries urine

from the renal pelvis to the urinary bladder. It descends from

the renal pelvis and enters the urinary bladder on the posterior

inferior surface.

The wall of the ureter consists of three layers:

1. The outer layer: the fibrous coat

2. The middle layer: the muscular coat. The main

function of this layer is peristalsis to propel the

urine.

3. The inner layer, the mucosa, is transitional

epithelium. This layer secretes mucus which coats

and protects the surface of the cells.

The Urinary bladder:

and protects the surface of the cells. The Urinary bladder: Urinary bladder temporarily stores urine prio

Urinary bladder temporarily stores urine prior to ―micturition‖. Bladder capacity is 700-800mL.

43

It is lined with mucosa of transitional epithelium with rugae. The triangular area formed by

openings of ureters and urethra is called ―trigone‖.

The muscularis layer of the urinary bladder has 3 layers of smooth muscle known as ―detrusor

muscle‖.

3 layers of smooth muscle known as ―detrusor m uscle‖. Urethra: Lowest part of the urinary

Urethra: Lowest part of the urinary

Urethra is fibro-muscular tube that exits the urinary bladder through the urethral opening

and conducts urine to the exterior of the body. The luminal lining of the urethra is a

protective mucous membrane. Bundles of primarily smooth muscle fibers surround the

mucosa and help propel urine to the outside of the body.

. Bundles of primarily smooth muscle fibers surround the mucosa and help propel urine to the

44

Urethra has two urethral sphincters: Inner urethral sphincter of smooth muscle;

external urethral sphincter of skeletal muscle. Sphincters restrict the release of urine until the

pressure within the urinary bladder is high enough and voluntary activities are needed to release

the urine. In a man, the urethra has two functions: it is the terminal portion of the urinary tract and

it is the passageway for the movement of the reproductive fluid (semen) from the male. In woman,

the urethra is a part of only the urinary tract.

Micturition (Urination)

Micturition is the expulsion of urine from the bladder. It is initiated by a complex sequence of

events called the micturition reflex.

Micturition reflex stretch receptors in wall of bladder stimulate smooth muscle (involuntary),

this causes stimulation of internal urethral sphincter (involuntary) and external urethral sphincter

of skeletal muscle (voluntary).

45

Human Reproductive System

46

The Human Reproductive System

Female Reproductive System

Introduction:

In human, gametes, called ova and sperm, come together during the process of fertilization to

produce a cell called the zygote, which ultimately develops into the new individual. Ability to

reproduce sexually is one of the main properties of human due to the presence of male and female

reproductive system.

Functions of Reproductive System:

The major function of the reproductive system is to ensure survival of the species. Within the

context of producing offspring, the reproductive system has four functions:

To produce egg and sperm cells (gametes)

To transport and sustain these cells

To nurture the developing offspring

To produce hormones mainly sex hormones

Sexual Reproduction

It involves the fusion of two types of haploid gametes, sperm and egg. The male and female

reproductive systems contribute to the events leading to fertilization. The male gonad called testes

produce the sex cell sperm cell and female gonad called ovaries produce the sex cell ova. The

gonads also produce hormones necessary for the proper development, maintenance, and functioning

of the organs of reproduction and other organs and tissues. Fusion of the gametes produces a

zygote, which develops into a new complete organism. Each zygote inherits 23 chromosomes from

47

the mother and 23 chromosomes from the father.

Female reproductive system

Functions of the female reproductive system: The female reproductive system is adapted to

produce a gamete called eggs, receive the sperm and incubate, protect and nourish the embryo

during and after pregnancy.

The processes of the female reproductive system are regulated by hormones secreted by the ovaries,

the hypothalamus and the anterior lobe of the

pituitary gland.

Main organs of the female reproductive system:

1. Ovaries: two female sex glands that produce

egg cells via oogenesis, and female sex hormones.

2. Fallopian Tubes or the oviducts: passage way of

ova from

the ovaries

and connected with the

passage way of ova from the ovaries and connected with the muscular uterus. Egg travels through

muscular uterus. Egg travels through these 2 tubes to the uterus.

3. Uterus or Womb: a muscular pear-shaped organ, where baby develops. The uterus ends in the

cervix

4. Cervix: Opening between the uterus &vagina

5. Vagina:

Muscular

tunnel

from

cervix

to

outside, opens to the vulva, the external female

organs

6. Accessory glands: the mammary glands.

tunnel from cervix to outside, opens to the vulva, the external female organs 6. Accessory glands:

48

1. Ovaries:

The two ovaries are the primary female reproductive organs or gonads. Ovaries are small, almond-

shaped organs located near lateral walls of pelvic cavity. The ovaries are held in place by various

ligaments which attached them to the uterus and the

pelvis.

Function of the ovaries

1.

Production of female gametes (oocytes)

 

2.

Secretion

of

female

sex

hormones

(estrogens,

progestin)

3. Secretion of inhibin: feedback control of pituitary FSH

3. Secretion of inhibin: feedback control of pituitary FSH  The ovary contains ovarian follicles, in

 The ovary contains ovarian follicles, in which eggs develop.

Once a follicle is mature, it ruptures and the egg is ejected from the ovary into the fallopian tubes.

This is called ovulation.

OOGENESIS (results in one haploid ovum):

Female sex cells, or gametes, develop in the ovaries by a form of meiosis called oogenesis.

2. Oviduct (Follapian tube):

The fallopian tubes are about 10 cm long and begin as funnel-shaped structures next to the ovary.

They have a number of projections known as fimbriae on the end near the ovary.

The oviduct receives the secondary oocyte, which moves by peristalsis and ciliary beating down the

oviduct toward the uterus. A successful fertilization occurs in the oviduct.

Ovum is fertilized at the oviduct. Motile sperm meet the egg in the upper part of the oviduct and

fertilization happens.

49

The fertilized ovum is carried to the uterus by the beating cilia on the inner wall of oviduct and the

contraction of muscles of the oviduct.

The newly formed zygote stays in the oviduct 3-4 days. This time is needed for the uterus to

prepare itself for implantation

3. Uterus:

The uterus is a muscular organ that receives

the

fertilized

oocyte

and

provides

an

appropriate environment for the developing

fetus. The uterus incubates the embryo.

The main part of the uterus (which sits in the

pelvic cavity) is called the body of the uterus,

while the rounded part above the entrance of

the fallopian tubes is the fundus.

The thick wall and lining of the uterus is composed of 3 layers:

Endometrium, myometrium and perimetrium

Endometrium: is the inner layer which has stratified, squamous, non-keratinized epithelium. It has

numerous uterine glands and consists of:

Stratum functionalis: It undergoes cyclic changes in response to ovarian hormones and is shed

during menstruation

Stratum basalis: It forms a new functionalis layer after menstruation ends. It does not respond to

ovarian hormones.The endometrium thickens each month in preparation for pregnancy, and if that

does not occur, it sheds in menstruation. A fertilized egg implants in the endometrium

50

for pregnancy, and if that does not occur, it sheds in menstruation. A fertilized egg implants

Myometrium: a smooth muscle layer. The myometrium is the large middle layer of the uterus,

which is made up of groups of muscle. It plays an important role during the birth of a baby by

contracting to move the baby out of the body via the birth canal (vagina).

Perimetrium: outer layer of connective tissue.

Before the first pregnancy, the uterus is about the size and shape of a pear, with the narrow portion

directed inferiorly. After childbirth, the uterus is usually larger, and then regresses after menopause.

4. The cervix:

It is the neck of the uterus and is a common site of cancer. Cervical glands secrete mucus.

5. Vagina:

It is a fibro-muscular tube, about 10 cm long that extends from the cervix of the uterus to the

outside. Vagina is located between the rectum and the urinary bladder. The vagina serves as a

passageway for menstrual flow, and is the birth canal during childbirth.

Accessory organ: The mammary glands:

Each breast is composed of glandular tissue (mammary glands) surrounded by adipose tissue.

During pregnancy and after the delivery of baby, the hormone prolactin from the anterior pituitary

stimulates the production of milk; Oxytocin from posterior pituitary stimulates the release of milk

by a positive feedback mechanism.

Summary Reproductive Hormones in Female

The hypothalamus, pituitary, and ovaries interact to regulate female reproduction

Hypothalamus releases Gonadotropin Releasing Hormone (GRH) which binds with receptors

in Anterior Pituitary

Anterior Pituitary releases Follicle Stimulating Hormone (FSH) and Luteinizing Hormone

(LH) pass in blood to the site of action

51

FSH acts on receptors in ovaries to stimulate development of the egg follicles

LH causes rupture of egg follicles.

Rupture of egg triggers production of estrogens and progesterone from remaining tissues of

follicle, corpus luteum.

These hormones travel in blood to the brain

Hypothalamus senses levels, then may decrease release of G (negative feedback mechanism).

Fertilization:

Fertilization is the fusion of sperm and egg. The ovum remains fertile for only ~ 24 hrs

(postovulation); sperm remain alive in the woman‘s reproductive tract for several days. Fertilization

is accompanied by an action potential in the egg

which stops further sperm entry. Further changes

occur on the outside of the egg to block further

sperm after fertilization. The ovum completes the

second meiotic division after sperm entry.

Implantation

If fertilization occurs, development begins as the

If fertilization occurs, development begins as the embryo is moved to the uterus. After about 3-5

embryo is moved to the uterus.

After about 3-5 days the embryo implants in the

endometrium. Membranes that develop around the

embryo secrete hCG, human chorionic gonadotrophin.

hCG

stimulates

the corpus

luteum

to

continue to

secrete progesterone. After ~ 3 months, uterine tissues

begin to form the placenta, the corpus luteum degrades

to secrete progesterone. After ~ 3 months, uterine tissues begin to form the placenta, the corpus

52

and the placenta takes over nourishment of the embryo.

The placenta itself secretes estrogen and progesterone

Structure of the placenta:

Placenta is a membranous vascular organ that develops in female during pregnancy, lining the

uterine wall and partially enveloping the fetus, to which it is attached by the umbilical cord. The

placenta grows during pregnancy and stays connected to the wall of the uterus where it provides the

fetus with nourishment. Following birth, the placenta is expelled.

Amniotic Sac:

Act as a shock absorber and prevent the fetus from getting shocks and germs.

Oxytocin receptors form in the uterus when released, the uterine wall contracts strongly Oxytocin

also stimulates prostaglandin production which can also powerfully stimulate uterine muscle

contraction.

53

MALE REPRODUCTIVE SYSTEM

The major function of the reproductive system is to ensure survival of the species. The male

reproductive system, like that of the female, consists of two groups of organs: primary and accessory

organs.

Functions of male reproductive system:

1. To produce, maintain and transport sperm (the male reproductive cells) and protective fluid

(semen)

2. To produce and secrete male sex hormones (Androgens mainly testosterone) responsible for

maintaining the male reproductive system, and male sex characteristics.

Male reproductive organs: Structure of the male reproductive system:

A. The primary reproductive organs called testes that produce gametes (reproductive cells) and

hormones. These hormones function in the maturation of the reproductive system, the development of

sexual characteristics, and have

reproductive system.

important roles in regulating the normal physiology of the

B.

The

secondary

reproductive

organs:

ducts

that

transport gametes, accessory glands and organs that

secrete fluids (semen).

The organs and their functions:

1. SCROTUM: The sac enclosing the testes. It has role

in temperature regulation and protection of the testes.

2. TESTES: For sperms production and the secretion of

54
54

male sex hormones.

3. DUCTS: Store and transport sperms

4. ACCESSORY GLANDS: Secretion of the fluid part of the semen.

5. PENIS: Serve for discharge of both urine and semen.

TESTES:

The paired testes are the primary male sex

glands that produce gametes and hormones.

Testes are covered by a membrane of fibrous

connective

tissue.

Connective

tissue

septa

divide testis into ~ 250 lobules. Each lobule

tissue septa divide testis into ~ 250 lobules. Each lobule contains 1-4 seminiferous tubules and interstitial

contains 1-4 seminiferous tubules and interstitial connective tissue.

Seminiferous tubules produce sperm:

Seminiferous tubules lined with spermatogenic cells that develop to form sperms and supporting cells

for the sperms nourishment.

Interstitial cells or Leydig cells: Leydig cells or interstitial cells that secrete male sex hormones

called androgens after puberty. The testes hang below the body housed in the scrotum, maintains

testes at lowered temperature

Sperm are produced by spermatogenesis in the seminiferous tubules

Sperm are collected into the epididymis that lead to the vas deferens

55

Hormonal control of the testes:

Seminiferous tubules: Contain receptor for FSH (Follicle stimulating hormone) in Sertoli cells

(The Sertoli cells in the seminiferous tubules nourish and protect the developing spermatozoa).

FSH stimulates spermatogenesis to occur.

Leydig cells or interstitial cells:

Stimulated by LH (Luteinizing hormone) to secret testosterone.

FSH and LH are released and triggered by the hypothalamus GnRH. GnRH stimulates the pituitary to

secrete gonadotrohic hormones.

Functions of testosterone:

Promotes spermatogenesis/sperm production

Maintains accessory organs

Muscle growth

Secondary sexual characteristics

Feedback to Pituitary and hypothalamus secretions

Spermatogenesis: production of sperm cells

secretions Spermatogenesis: production of sperm cells Spermatogenesis occurs within the testes, in the

Spermatogenesis occurs within the testes, in the seminiferous tubules. Spermatogonia (germ cells)

divide by mitosis to form more spermatogonia. Some spermatogonia become primary spermatocytes

which undergo spermatogenesis (sperm production by meiosis). Primary spermatocytes produce

secondary spermatocytes, which produce spermatids. Four haploid spermatids are produced by one

diploid primary spermatocyte.

1st meiotic division produces 2 secondary spermatocytes.

2nd meiotic division produces 4 spermatids.

56

Development of Mature Sperm:

Spermatids differentiate into a mature sperm by developing a flagellum, an enzyme cap (the

acrosome).

The Sertoli cells supply nutrients to the sperm.

The mid-piece is located at the base of the flagellum, and is supplied with mitochondria (Tail

provides propulsion)

 Testosterone required for completion of meiosis and spermatid maturation

 Sperm develop at a temperature lower than the core body temperature in the scrotum

Pathway of spermatozoa:

Duct system:

After they leave the testes, the sperm passes through the epididymis, ductus deferens, ejaculatory

duct, and urethra. Sperm leave the seminiferous tubules and move into tubules of the epididymis,

where the sperm cells mature and stored. Sperm are then ejaculated from the epididymis into the vas

deferens, which passes into the pelvic cavity. The vas deferens leads to the ejaculatory duct, which

passes through the prostate gland and empties into the urethra. The urethra may carry urine or semen,

and passes out through the penis.

Ducts and Tubules Store and Transport Sperm

1. Epididymis

This is a long tube (about 6 meters) located along the superior

and posterior margins of the testes. Sperm that leave the testes

are immature. They complete their maturation process and

become fertile as they move through the epididymis. Mature

are immature. They complete their maturation process and become fertile as they move through the epididymis.

57

sperm are stored in the lower portion, or tail, of the epididymis.

Spermatic cord

This contains the proximal ductus deferens, testicular artery and veins, lymph vessels, testicular

nerve, muscle and a connective tissue covering.

2. Ductus Deferens [vas deferens]

This is a fibro-muscular tube that is continuous with the epididymis.

Vas deferens enters the abdomino- pelvic cavity and passes along the lateral pelvic wall, behind

bladder and toward the prostate gland. Sperm are stored in the proximal portion of the ductus

deferens, near the epididymis.

3. Ejaculatory Duct

Each ductus deferens joins the duct from the adjacent seminal vesicle (one of the accessory glands) to

form a short ejaculatory duct. Each ejaculatory duct passes through the prostate gland and empties

into the urethra.

4. Urethra:

The penis contains the urethra tube that carries urine from the bladder to outside of the body and also

carries semen out of the body.

Accessory glands:

When sperm leaves the body, it will go up the

vas deferens, past the following glands:

1.

Seminal vesicles

2.

Prostate gland

3.

Bulbourethral gland (cowper‘s gland)

The accessory glands produce the fluid portion

gland) The accessory glands produce the fluid portion of semen. Semen is the sperm suspended in

of semen. Semen is the sperm suspended in the fluid productions of the seminal vesicles. A single

ejaculate of about 3.5 mL of semen contains about 400 million sperm cells.

58

The paired seminal vesicles secrete a fluid rich in fructose.

The single prostate gland, located under the bladder, secretes an alkaline fluid that. It helps to

neutralize the acidic environment of the vagina. The alkaline environment is crucial to generate active

motility in sperm.

The paired bulbourethral glands produce a mucous secretion which lubricates the penis.

Seminal vesicles: (Paired, on back wall of urinary bladder) are active secretory gland. They contribute

~ 60% total volume of semen. Secretions contain fructose, prostaglandins and fibrinogen.

 Activate sperm (leading to motility): Alkaline fluid containing fructose for sperms nutrition and

energy.

Prostate gland: (Single, doughnut-shaped). It contributes ~ 20 - 30% of seminal fluid.

Bulbourethral glands: (Cowper‘s glands) (Pea size, paired, at base of penis). They produce about

10% of semen.

The glands secretion functions to neutralize any acidic urine present in the urethra prior to

ejaculation.

 Secrete alkaline mucus with lubricating properties

Semen: is a mixture of sperm and seminal fluid, a liquid that consists of the secretions of the

seminiferous tubules, seminal vesicles, prostate, and bulbourethral.

It is a milky white, sticky mixture of sperm and accessory gland secretions.

 Semen provides a transport medium and nutrients (fructose), protects and activates sperm, and

facilitates their movement.

Main constituents:

1. Sperm - 20 - 100 million sperm/ ml. A very large number of sperm is required for successful

fertilization.

2. Seminal fluid Secreted from glands

3. Enzymes protease to break down clotting

59

Hormonal Regulation of Male Reproduction:

The entire male reproductive system is dependent on hormones. The primary hormones involved in

the male reproductive system are:

follicle-stimulating hormone (FSH)

luteinizing hormone (LH)

testosterone (Androgens)

The hypothalamus, pituitary, and testes interact to regulate male reproduction

 At about age 10, the hypothalamus secretes gonadotropin-releasing hormone (GnRH)

 GnRHstimulates the anterior pituitary to secrete the gonadotrophic hormones: follicle stimulating

hormone (FSH) and luteinizing hormone (LH)

Follicle-stimulating hormone (FSH):

FSH stimulates Sertoli cells that results in development of the seminiferous tubules and stimulates

spermatogenesis.

Luteinizing hormone (LH):

LH, also called interstitial cell stimulating hormone (ICSH), stimulates the interstitial cells to secrete

testosterone.

Inhibin:

Secreted by the Sertoli cells, inhibits FSH production (Negative feedback mechanism)

Testosterone (Main androgens):

Stimulates spermatogenesis, growth of the reproductive organs and development of the male primary

and secondary sexual characteristics including muscle mass , fat distribution, bone mass, facial and

body hair growth, voice change and sex drive.

 In castration before puberty, the male remains childlike sex organs and develops no male

secondary sex characteristics

60

Castration after puberty causes increased secretion of male hormones by the adrenal glands

maintains masculine characteristics.

Male Infertility

Over the past 30 years, the sperm content of semen has dropped dramatically

In the 1970s sperm content of an average ejaculate was ~100 million / mL; now it is ~60 million /

mL

It is thought that low sperm count is attributable to drug usage, alcohol abuse, cigarette smoking

and possibly industrial and environmental toxins.

61

Macromolecules and Enzymes

62

Macromolecules

The structure and physiology of all living organisms is dependent mainly on large molecules known as macromolecules (proteins, carbohydrates, lipids and DNA). In addition to these molecules water, vitamins and micromolecules such as metal ions also play their important role in the maintenance of life activities.

1. Amino acids and Proteins

Proteins are the most abundant and functionally diverse molecules in living systems. Every life process

depends on this class of molecules. For example, enzymes and polypeptide hormones direct and regulate metabolism in the body, whereas contractile proteins in muscle permit movement.

Structure of the amino acids Although more than 300 different amino acids have been described in nature, only 20 are commonly found as constituents of mammalian proteins. Symbols or codes for amino acids

Each amino acid is given a three letters or single letter code.

Peptide bond

In proteins, amino acids are joined covalently by peptide

bonds, which are amide linkages between the α-carboxyl group

of one amino acid and the α-amino group of another.

Structure of proteins

The structure of proteins has been given 4 different stages i.e.

primary, secondary, tertiary and quaternary structures.

structure of proteins has been given 4 different stages i.e. primary, secondary, tertiary and quaternary structures.

63

Primary structure of proteins

The sequence of amino acids in a polypeptide chain is known as primary structure of proteins. The

primary structure of proteins has only peptide bond between the amino acids as the binding force.

Secondary structure of proteins

The arrangement of amino acids in the

polypeptide

chain

into

some

regular

secondary structures like alpha-helices and

beta-pleated sheets or irregular structures

like random coils, turns and loops is known

as the secondary structure of proteins.

Tertiary structure of proteins

Three

dimensional

arrangements

of

secondary structures is known as tertiary

structure of proteins. The proteins become

functionally active after having the tertiary

structure

if

they

consist

polypeptide chain.

of

single

Quaternary structure of proteins

For those proteins which consist of more

than one polypeptide chains, these chains

interact

with

each

other

after

achieving

tertiary structure to become a functional

unit. This combination of properly folded

a functional unit. This combination of properly folded two or more polypeptides for a physiological activity

two or more polypeptides for a physiological activity is known as quaternary structure of proteins.

64

Carbohydrates Carbohydrates are molecules composed of carbon, hydrogen, and oxygen; the ratio of hydrogen atoms to oxygen atoms is 2:1. Almost all organisms use carbohydrates as sources of energy. In addition, some carbohydrates serve as structural materials.

On the basis of the number of forming units, three major classes of carbohydrates can be defined:

monosaccharides, oligosaccharides and polysaccharides. The term ―saccharide‖ derives from the greek word ―sakcharon‖, which means sugar.

Monosaccharides or simply sugars are formed by only one polyhydroxy aldehydeidic or ketonic unit. The most abundant monosaccharide is D-glucose, also called dextrose.

Oligosaccharides are formed by short chains of monosaccharidic units (from 2 to 20) linked one to the next by chemical bounds, called glycosidic bounds. The most abundant oligosaccharides are disaccharides, formed by two monosaccharides, and especially in the human diet the most important are sucrose (common table sugar), lactose and maltose. Within cells many oligosaccharides formed by three or more units do not find themselves as free molecules but linked to other ones, lipids or proteins, to form glycoconjugates.

Polysaccharides are polymers consisting of 20 to 10 7 monosaccharidic units; the difference is due to the presence of monosaccharides recurring in the structure, for the length and the degree of branching of chains or for the type of links between units. Polysaccharides are defined omopolysaccharides if they contain only one type of monosaccharide as starch, glycogen and chitin; eteropolysaccharides, instead, contain two or more different kinds (e.g. hyaluronic acid).

65

Lipids Lipids are organic molecules composed of carbon, hydrogen, and oxygen atoms. The ratio of hydrogen atoms to oxygen atoms is much higher in lipids than in carbohydrates. Lipids include steroids (the material of which many hormones are composed), waxes, and fats. Fats stored in cells usually form clear oil droplets called globules because fats do not dissolve in water. The fats in adipose tissue contain much concentrated energy. Hence, they serve as a reserve energy supply to the organism. The enzyme lipase breaks down fats into fatty acids and glycerol in the human digestive system.

supply to the organism. The enzyme lipase breaks down fats into fatty acids and glycerol in

66

Enzymes

Enzymes are proteins that control the speed of chemical reactions in your body. Without enzymes, these reactions would take place too slowly to keep you alive. The branch of science concerned with the study of enzymes is called enzymology.

Background The history of enzymes and enzymology is as old as the history of human beings. In the modern biochemistry, the first use of enzymes was made by Louis Pasteur in 1850s when he was converting sugars to alcohols by the help of yeast cells. The word enzyme means ―in yeast‖ (en- in, zyme- yeast).

wor d enzyme means ―in yeast‖ (en - in, zyme- yeast). Louis Pasteur Properties of enzymes

Louis Pasteur

Properties of enzymes

1. Enzymes are proteins in nature: A vast majority of enzymes are protein catalysts that

increase the velocity of a chemical reaction, and are not consumed during the reaction.

2. Active sites: Enzymes are larger molecules which contain a special pocket or cleft called the

active site. The active site contains amino acid side chains that participate in substrate binding and catalysis. The substrate binds the enzyme, forming an enzymesubstrate (ES) complex.

E

+

S

<==> ES <==> S

+ P

Where E stands for enzyme, S for substrate and for products.

Substrate: The material or substance on which an enzyme acts. Product: The product is what you're left with when the enzyme binds with the substrate.

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Enzyme nomenclature/classification The enzymes are named according to different criteria.

They may be named after the name of substrate acted upon, after the name of product and the

name of reaction catalyzed. For example, enzymes acting upon lipids were named lipases, acting on proteins were named proteinases and sucrose (acting upon sucrose) etc.

Similarly, the enzymes have also been named after the name of product of reaction catalyzed

with the addition of suffix ase after the name of product. For example, fumarase is the enzyme

which catalyzes the production of fumarate.

As the enzymes are reaction specific, they can also be named after the name of reaction

catalyzed. For example, hydrolase (catalyzing hydrolysis), Oxidase (catalyzing oxidation), dehydrogenase (catalyzing dehydrogenation reaction).

In 1961, International Union of Biochemistry (I.U.B.) named the enzymes according to the

name of substrate and chemical reaction involved by adding suffix ase after the name of chemical

reactions. e.g. L-malate dehydrogenase.

Classification of enzymes Enzymes are classified into 6 major classes and 13 sub classes on the basis of the type of reaction they catalyze. The major classes and related reaction types are described in the table below:

and related reaction types are described in the table below: Binding of an enzyme active site

Binding of an enzyme active site with the substrate

There are two basic concepts about the binding of an enzyme active site with the substrate.

Lock and key theory: The Lock and key theory was proposed by Emile Fischer in 1894.

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According to this theory the enzyme is a larger and rigid molecule and the substrate fits into the enzyme active site like a key fits into a lock.

into the enzyme active site like a key fits into a lock. (Lock and key theory

(Lock and key theory of ES-Complex)

a key fits into a lock. (Lock and key theory of ES-Complex) (Induced-fit theory of ES-Complex)

(Induced-fit theory of ES-Complex)

Theory of induced fit: The theory of induced fit was proposed by Daniel Koshland in 1958. According to this theory, the enzyme is a rigid larger molecule with minimum flexibility in the active site. The binding of substrate with the enzyme active site causes a conformational change in the enzyme (induced fit) that allows catalysis. ES is converted to an enzymeproduct (EP) complex that subsequently dissociates to enzyme and product.

3.

Catalytic

efficiency:

Enzyme

catalysed

reactions

are

highly

efficient,

proceeding

from

10 3 10 8

times

faster

than

uncatalyzed

reactions.

4. Specificity: Enzymes are highly

specific, interacting with one or a few

faster than uncatalyzed reactions. 4. Specificity: Enzymes are highly specific, interacting with one or a few

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substrates and catalysing only one type of chemical reaction.

5. Apoenzymes and Holoenzymes:

The term holoenzyme refers to the active enzyme with its

non-protein component, whereas the enzyme without its nonprotein moiety is termed an apoenzyme

and is inactive.

Cofactor: If the nonprotein part is a metal ion such as Zn 2+ or Fe 2+ , it is called a cofactor.

Coenzyme: If the nonprotein part is organic molecule, it is termed a coenzyme.

Cosubstrates: If the coenzyme is temporarily associate with the enzyme are called cosubstrates.

Prosthetic group: If the coenzyme is permanently associated with the enzyme and returned to its

original form, it is called a prosthetic group.

How enzymes work?

Every chemical reaction requires crossing a specific energy barrier to start. This energy barrier is

known as activation energy. More precisely, the activation energy is the amount of energy required to

bring a substrate from its ground state (stable) to transition state (highly unstable). The catalysts like

the enzymes lower the activation energy of a chemical reaction and consequently increase the rate of

reaction. The reaction coordinate diagram indicates the activation energy of an uncatalyzed reaction is

higher than that of an enzyme catalysed reaction. The increase in rate of reaction decreases the time to

achieve the reaction equilibrium.

an enzyme catalysed reaction. The increase in rate of reaction decreases the time to achieve the

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However it does not change the equilibrium position of a chemical reaction.

Factors Affecting Enzyme Activity

Enzyme Concentration Increase in the concentration of the enzyme increases the rate of reaction linearly. That is if the concentration of enzyme is doubled, the rate doubles.

Substrate Concentration At constant enzyme concentration, initially, the rate increases with increases in substrate concentration, but at a certain level, the rate levels out and remains constant. So at some point, increasing the substrate concentration does not increase the rate of reaction, because the excess substrate cannot find any active sites to attach to.

Temperature For enzyme-catalyzed reactions, like all chemical reactions, rate increases with temperature. However, enzymes are proteins, and at higher temperatures proteins become denatured and inactive. Thus, every enzyme has an optimum temperature.

Optimum temperature - the temperature at which enzyme activity is highest, usually about 25 o C-

40 o C.

Effect of pH Small changes in pH can result in enzyme denaturation and loss of catalytic activity. Because the charge on acidic and basic amino acid residues located at the active site depends on pH. Most enzymes only exhibit maximum activity over a very narrow pH range.

Optimum pH - is the pH at which an enzyme has maximum activity. Most enzymes have an optimum pH that falls within the physiological range of 7.0-7.5.

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Inhibition of enzyme activity

Enzyme inhibitors are molecules that interact in some way with the enzyme to prevent it from working in the normal manner. These inhibitors can be specific and nonspecific. Nonspecific Inhibitors:

A nonspecific inhibitor effect all enzymes in

the same way. Non-specific methods of inhibition include any physical or chemical changes which ultimately denatures the protein portion of the enzyme and are therefore irreversible.

portion of the enzyme and are therefore irreversible. Specific Inhibitors : A specific inhibitor effects upon

Specific Inhibitors:

A specific inhibitor effects upon a single enzyme. Most poisons

work by specific inhibition of enzymes. It can be irreversible and reversible - competitive and noncompetitive. Poisons and drugs are examples of enzyme inhibitors.

Competitive inhibition This type of inhibition occurs when the inhibitor binds reversibly to the same site that the substrate would normally occupy and, therefore, competes with the substrate for that site. Noncompetitive inhibition Noncompetitive inhibition occurs when the inhibitor and substrate bind at different sites on the enzyme. The non- competitive inhibitor can bind either free enzyme or the ES complex, thereby preventing the reaction from occurring.

competitive inhibitor can bind either free enzyme or the ES complex, thereby preventing the reaction from

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Applications of Enzymes

In daily life:

The enzymes have many applications in our daily life. Some important applications include production of dairy products, wine manufacturing, candy making, fruit juices, tenderizing meat etc.

In medical sciences:

Diagnosis of diseases: Fluctuation in the standard amount of enzymes in human body sometimes

can be used as predictable markers for some diseases, for example: The activity of renin, a proteolytic

enzyme produced by kidneys is found associated with hypertension and is used as the indirect marker

of hypertension diagnosis.

Cancer Chemotherapy: Some enzymes are used in cancer chemotherapy.

Digestive Enzymes

Digestive Enzymes assist the body in the breakdown of food. Different enzymes with different

functions are produced in particular areas of the digestive tract. Digestive enzymes are primarily responsible for the chemical breakdown of food and constitute a large portion of digestive secretions. The human body makes approximately 22 different enzymes that are involved in digestion.

Mouth Saliva contains the enzyme salivary amylase. This enzyme breaks starch into smaller sugars and is stimulated by chewing. It is important to chew food thoroughly as this is the first stage of the digestive process. Starch hydrolysed into maltose through the action of the enzyme amylase Stomach The stomach is responsible for the digestion of protein. Gastric juice is produced by the gastric glands in the stomach wall. It contains mucus, hydrochloric acid, the inactive enzyme precursor Pepsinogen. Pepsinogen is activated by the hydrochloric acid, which converts it into pepsin. Pepsin converts proteins into peptides.

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Small intestine Enzymes produced by the wall of the small intestine are not secreted like the other enzymes of the digestive tract. Instead, they remain attached to the plasma membrane of the cells lining the intestine, with their active sites exposed to the food in the intestine. With this arrangement, the substrates can be digested and then the products of digestion can immediately be absorbed into the body. Jejunum absorbs water-soluble vitamins, protein and carbohydrates. Maltose hydrolysed into glucose through the action of the enzyme maltase. Maltase breaks down maltose into two glucose molecule. The ileum absorbs fat-soluble vitamins, fat, cholesterol and bile salts. The small intestine also receives secretions and enzymes from the pancreas, liver and the gallbladder.

Pancreas The pancreas produces digestive enzymes that act in the small intestine. These enzymes play a major role in digestion. The pancreas secretes about one and a half litters of pancreatic juice a day. The enzymes produced by the pancreas include; Amylases - Pancreatic amylase carries out the same reaction as salivary amylase. These break down starch molecules into smaller sugars. Amylases also break down carbohydrates into maltose. Lipases - Lipases function in the digestion of fats, oils and fat-soluble vitamins. Proteases - are responsible for breaking down protein into smaller amino acids. Proteases include trypsin, chymotrypsin and carboxypeptidase. A lack of proteases can cause incomplete digestion that can lead to allergies and the formation of toxins.

Liver The liver is the largest internal organ of the human body. The liver produces bile that is either stored by the gallbladder or secreted into the small intestine. Bile emulsifies fats and fat-soluble vitamins. It also helps keep the small intestine free from parasites. The liver metabolizes proteins, carbohydrates and cholesterol and is responsible for the detoxification of toxins, drugs and hormones.

Large intestine The large intestine absorbs water, electrolytes and some of the final products of digestion.

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Digestive Enzymes

Digestive juices and enzymes

Substance

Product formed

digested

Saliva

Starch

Maltose

Amylase

Gastric juice Protease (pepsin) and hydrochloric acid

Proteins

Partly digested proteins

Pancreatic juice Proteases (trypsin) Lipases Amylase

Proteins

Peptides and amino acids Fatty acids and glycerol Maltose

Fats emulsified

by bile

Starch

 

Intestinal enzymes Peptidases Sucrase Lactase Maltase

Peptides

Amino acids Glucose and fructose Glucose and galactose Glucose

Sucrose (sugar)

Lactose (milk

sugar)

Maltose

 

Bile from the liver Bile salts

Fats globules

Fat droplets

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Pathogens and infectious diseases

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Pathogens

A pathogen is a biological agent that causes disease or illness to its host. Pathogens include the disease causing microorganisms, such as bacteria, fungi , protozoans and viruses, found commonly in sewage, hospital waste and anywhere in the environment. Most pathogens are parasites (live off the host) and the diseases they cause are indirect result of their obtaining food and introducing toxic or harmful materials into the host. Larger parasites (such as worms) are not called pathogens.

Viruses

Viruses are small infectious agents that replicate only inside the living cells of host organisms. Viruses can infect all types of life forms, from animals and plants to bacteria and Achaea. Viruses were first of all reported in the leaves of infected tobacco plant by Dmitri Ivanovsky's in 1892. Virion: In its infective form, outside the cell, a virus particle is called a virion. Each virion contains at least one unique protein synthesized by specific genes in its nucleic acid. Structure: A virus particle consists of a DNA or RNA core which serves as the viral genome. The genome remains protected in a protein coat. The protein coat or capsid consists of a head region, a tail, an end plate and tail fibers.

of a head region, a tail, an end plate and tail fibers. Capsid - The capsid

Capsid - The capsid is the protein shell that encloses the nucleic acid; with its enclosed nucleic acid, it is called the nucleocapsid.

Envelope - Many types of virus have a glycoprotein envelope surrounding the nucleocapsid. The envelope is composed of two lipid layers interspersed with protein molecules (lipoprotein bilayer) and may contain material from the membrane of a host cell as well as that of viral origin.

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Nucleic Acid - The genetic material within virus particles, and the method by which the material is replicated, varies considerably between different types of viruses.

DNA viruses The genome replication of most DNA viruses takes place in the cell's nucleus. If the cell has the appropriate receptor on its surface, these viruses enter the cell sometimes by direct fusion with the cell membrane (e.g., herpesviruses) or more usually by receptor-mediated endocytosis. Most DNA viruses are entirely dependent on the host cell's DNA and RNA synthesising machinery, and RNA processing machinery; however, viruses with larger genomes may encode much of this machinery themselves. In eukaryotes the viral genome must cross the cell's nuclear membrane to access this machinery, while in bacteria it need only enter the cell. RNA viruses Replication usually takes place in the cytoplasm. RNA viruses can be placed into four different groups depending on their modes of replication. The polarity (whether or not it can be used directly by ribosomes to make proteins) of single-stranded RNA viruses largely determines the replicative mechanism; the other major criterion is whether the genetic material is single-stranded or double- stranded. All RNA viruses use their own RNA replicase enzymes to create copies of their genome

Mode of action/ mechanism of viral pathogenesis Generally viral pathogenic mechanisms include implantation of the virus at a body site (the portal of entry), replication at that site, and then spread to and multiplication within sites (target organs) where disease or shedding of virus into the environment occurs.

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to and multiplication within sites (target organs) where disease or shedding of virus into the environment

Viral populations do not grow through cell division, because they are acellular. Instead, they use the machinery and metabolism of a host cell to produce multiple copies of themselves, and they assemble in the cell.

copies of themselves, and they assemble in the cell. A typical virus replication cycle The life

A typical virus replication cycle

The life cycle of viruses differs greatly between species but there are six basic stages in the life

cycle of viruses:

Attachment is a specific binding between viral capsid proteins and specific receptors on the host

cellular surface. Attachment to the receptor can induce the viral envelope protein to undergo changes

that results in the fusion of viral and cellular membranes, or changes of non-enveloped virus surface

proteins that allow the virus to enter.

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Penetration or viral entry follows attachment: Virions enter the host cell through receptor-

mediated direct penetration, endocytosis or membrane fusion. This is often called viral entry.

Uncoating is a process in which the viral capsid is removed: This may be by degradation by viral

enzymes or host enzymes or by simple dissociation; the end-result is the releasing of the viral genomic

nucleic acid.

Replication of viruses involves primarily multiplication of the genome. Replication involves

synthesis of viral messenger RNA (mRNA), viral protein synthesis, possible assembly of viral

proteins, then viral genome replication mediated by early or regulatory protein expression. Following

the structure-mediated self-assembly of the virus particles, some modification of the proteins often

occurs.

Release of Viruses from host cell can occur by lysis, a process that kills the cell by bursting its

membrane.

Some viruses undergo a lysogenic cycle where the viral genome is incorporated by genetic

recombination into a specific place in the host's chromosome. Whenever the host divides, the viral

genome is also replicated.

The viral genome is mostly silent within the host; however, at some point, it may give rise to active

virus, which may lyse the host cells.

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81

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Enveloped viruses (e.g., HIV) typically are released from the host cell by budding. During this process the virus acquires its envelope, which is a modified piece of the host's plasma or other, internal membrane.

piece of the host's plasma or other, internal membrane. Effects on the host cell Most virus

Effects on the host cell

Most virus infections eventually result in the death of the host cell. The causes of death include cell lysis, alterations to the cell's surface membrane and apoptosis. Some viruses cause no apparent changes to the infected cell. Cells in which the virus is latent and inactive show few signs of infection and often function normally. In humans, smallpox, the common cold, chickenpox, influenza, shingles, herpes, polio, rabies and AIDS are examples of viral diseases.

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Bacteria

Bacteria are microscopic unicellular prokaryotic organisms characterized by the lack of a membrane- bound nucleus and membrane-bound organelles. They were first observed by Antony van Leeuwenhoek in the 17th century. However, bacteriology as an applied science began to develop in the late 19th century as a result of research in medicine and in fermentation processes by Louis Pasteur and Robert Koch.

fermentation processes by Louis Pasteur and Robert Koch. Structure In most bacteria, a cell wall is

Structure In most bacteria, a cell wall is present on the outside of the cytoplasmic membrane. A common bacterial cell wall material is peptidoglycan. The plasma membrane and cell wall comprise the cell envelope.

Plasma membrane encloses the contents of the cell and acts as a barrier to hold nutrients, proteins and other essential components of the cytoplasm within the cell. Bacteria do not usually have membrane- bound organelles in their cytoplasm and their genetic material is typically a single circular chromosome located in the cytoplasm in an irregularly shaped body called the nucleoid. The nucleoid contains the chromosome with its associated proteins and RNA. Bacteria are divided into several types on the basis of their shape and structure. Bacteria cause diseases in man including tuberculosis, cholera, typhoid fever and tetanus.

their shape and structure. Bacteria cause diseases in man including tuberculosis, cholera, typhoid fever and tetanus.

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How bacteria cause diseases in human Pathogenic bacteria can be grouped into three categories on the basis of their invasive properties for eukaryotic cells.

Extracellular bacteria

Intracellular bacteria

Extracellular bacteria: Extracellular bacterial pathogens do not invade cells and proliferate instead in the extracellular environment which is enriched with body fluids. Some of extracellular bacteria even don‘t penetrate body tissues (e.g. V. cholerae) but adhere to epithelial surfaces and cause disease by

secreting potent toxins. Extracellular bacteria do not have the capacity to survive the intracellular environment or to induce their own uptake by most host cells.

or to induce their own uptake by most host cells. Intracellular Bacteria: Intracellular bacteria can enter

Intracellular Bacteria:

Intracellular bacteria can enter and survive within eukaryotic cells are shielded from humoral antibodies and can be eliminated only by a cellular immune

response. However these bacteria must possess specialized mechanisms to protect them from the harsh environment of the lysosomal enzymes encountered within the cells. Steps in the intracellular life cycles of the bacterial pathogens. (1) internalization of bacteria into host cells, (2) destruction of phagosomes and access of bacteria to the host cytosol, (3) replication in the cytosol, (4) entrance in the adjacent cell, (5) formation of bacterial protrusions, (6) engulfment of protrusions and (7) dissolution of the double membranous vacuole. The process of cellcell spread comprises steps 47.

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Two broad qualities of pathogenic bacteria underlie the means by which they cause disease;

1. Invasiveness is the ability to invade tissues. It encompasses

is the ability to invade tissues. It encompasses mechanisms for colonization (adherence and initial

mechanisms for colonization (adherence and initial multiplication),

production of extracellular substances which facilitate invasion (invasins) and ability to bypass or overcome host defense mechanisms.

2. Toxigenesis is the ability to produce toxins. Bacteria may produce

two types of toxins called exotoxins and endotoxins. Exotoxins are released from bacterial cells and may act at tissue sites removed from the site of bacterial growth. Endotoxins are cell-associated substance. Some bacterial toxins may also act at the site of colonization and play a role in invasion.

Binary fission: Bacteria grow to a fixed size and then reproduce through binary fission, a form of asexual reproduction. Under optimal conditions, bacteria can grow and divide extremely rapidly, and bacterial populations can double as quickly as every 9.8 minutes. Treatment: Bacterial infections may be treated with antibiotics, which are

classified as bactericidal if they kill bacteria or bacteriostatic if they just prevent bacterial growth.

Fungi

Fungi cause diseases because they have toxins called mycotoxins, which can cause serious illness if ingested. The spores may also cause allergic reactions and diseases to susceptible humans and animals, such as bronchitis. Fungi may also cause infections but this only affects people with a very low immune system. Fungal diseases are called mycoses and those affecting humans can be divided into four groups based on the level of penetration into the body tissues.

Superficial mycoses are caused by fungi that grow on the surface of the skin or hair.

Cutaneous mycoses or dermatomycoses include such infections as athlete's foot and ringworm,

where growth occurs only in the superficial layers of skin, nails, or hair.

Subcutaneous mycoses penetrate below the skin to involve the subcutaneous, connective, and

bone tissue.

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Systemic or deep mycoses are able to infect internal organs and become widely disseminated

throughout the body. This type is often fatal.

Athlete‘s foot
Athlete‘s foot

Disease mechanisms of Fungi:

Entry: Fungi infect the body through several portals of entry. The first exposure to fungi that most humans experience occurs during birth, when they encounter the yeast C. Albicans.

Multiplication: Although most fungal diseases are the result of accidental

encounters with the agent, many fungi have developed mechanisms that facilitate their multiplication within the host. For example, the dermatophytes that colonize skin, hairs, and nails elaborate enzymes that digest keratin. Fungal growth is discouraged by the intact skin and factors such as naturally occurring long-chain unsaturated fatty acids, pH competition with the normal bacteria, epithelial turnover rate of stratum corneaum. In humans, fungi can cause ringworms and athlete's foot diseases.

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Infectious diseases

Infectious diseases are caused by pathogenic microorganisms, such as bacteria, viruses, protozoans and fungi. The diseases can be spread, directly or indirectly, from one person to another. Major infectious diseases are Influenza, pneumonia, cholera, malaria, measles, tuberculosis, dengue and hepatitis.

Influenza Influenza is an acute viral infection that spreads easily from person to person. Influenza circulates worldwide and can affect anybody in any age group.

Causative agent Seasonal influenza is caused by an influenza virus. There are three types of seasonal influenza A, B and C.

are three types of seasonal influenza – A, B and C. Signs and symptoms Seasonal influenza

Signs and symptoms Seasonal influenza is characterized by a sudden onset of high fever, cough (usually dry), headache, muscle and joint pain, severe malaise (feeling unwell), sore throat and runny nose. Most people recover from fever and other symptoms within a week without requiring medical attention. But influenza can cause severe illness or death in people at high risk. The time from infection to illness, known as the incubation period, is about two days.

or death in people at high risk. The time from infection to illness, known as the

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Risk factors The highest risk of complications occur among children younger than age two, adults age 65 or older, and people of any age with certain medical conditions, such as chronic heart, lung, kidney, liver, blood or metabolic diseases (such as diabetes), or weakened immune systems

.

Transmission Seasonal influenza spreads easily and can sweep through schools, nursing homes or businesses and towns. When an infected person coughs, infected droplets get into the air and another person can breath them in and be exposed. The virus can also be spread by hands infected with the virus. To prevent transmission, people should cover their mouth and nose with a tissue when coughing, and wash their hands regularly.

with a tissue when coughing, and wash their hands regularly. Treatment Antiviral drugs for influenza are

Treatment Antiviral drugs for influenza are available in some countries and effectively prevent and treat the illness. Prevention The most effective way to prevent the disease or severe outcomes from the illness is vaccination. Safe and effective vaccines have been available and used for more than 60 years.

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Measles

Measles is one of the leading causes of death among young children even though a safe and cost- effective vaccine is available. Measles is a highly contagious, serious disease caused by a virus.

Causative agent Measles is caused by Rubeola virus (paramyxovirus family). The measles virus normally grows in the cells that line the back of the throat and lungs. Measles is a human disease and is not known to occur in animals.

is a human disease and is not known to occur in animals. Symptoms The first sign

Symptoms The first sign of measles is usually a high fever, which begins about 10 to 12 days after exposure to the virus, and lasts four to seven days. A runny nose, a cough, red and watery eyes, and small white spots inside the cheeks can develop in the initial stage. After several days, a rash erupts, usually on the face and upper neck. Over about three days, the rash spreads, eventually reaching the hands and feet. The rash lasts for five to six days, and then fades. On average, the rash occurs 14 days after exposure to the virus (within a range of seven to 18 days). Most measles-related deaths are caused by complications associated with the disease. Complications are more common in children under the age of five, or adults over the age of 20.

Mode of transmission The highly contagious virus is spread by coughing and sneezing, close personal contact or direct contact with infected nasal or throat secretions. It can be transmitted by an infected person from four days prior to the onset of the rash to four days after the rash erupts.

Treatment No specific antiviral treatment exists for measles virus. Severe complications from measles can be avoided though supportive care that ensures good nutrition, adequate fluid intake and treatment of dehydration with WHO-recommended oral rehydration solution. This solution replaces fluids and

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other essential elements that are lost through diarrhoea or vomiting. Antibiotics should be prescribed to treat eye and ear infections, and pneumonia.

prescribed to treat eye and ear infections, and pneumonia. Prevention Routine measles vaccine has been in

Prevention Routine measles vaccine has been in use for over 40 years. It is safe, effective and inexpensive.

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Pneumonia

Pneumonia is an infection of the lungs caused by bacteria, viruses or fungi. It is characterized primarily by inflammation of the alveoli in the lungs or by alveoli that are filled with fluid (alveoli are microscopic sacs in the lungs that absorb oxygen). In severe condition, pneumonia can make a person very sick or even cause death. Although the disease can occur in young and healthy people, it is most dangerous for older adults, babies, and people with other diseases or impaired immune systems. Bacteria and viruses are the primary causes of pneumonia. When a person breathes pneumonia- causing germs into his lungs and his body's immune system cannot otherwise prevent entry, the organisms settle in small air sacs called alveoli and continue multiplying. As the body sends white blood cells to attack the infection, the sacs become filed with fluid and pus causing pneumonia.

Bacterial Pneumonia Streptococcus pneumoniae is the most common cause of bacterial pneumonia. Atypical pneumonia, a type of pneumonia that typically occurs during the summer and fall months, is caused by the bacteria

Mycoplasma pneumoniae.

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Viral Pneumonia Viral pneumonias do not typically respond to antibiotic treatment (in contrast to bacterial pneumonias). Adenoviruses, rhinovirus, influenza virus (flu), respiratory syncytial virus (RSV), and parainfluenza virus are all potential causes of viral pneumonia.

Fungal Pneumonia Histoplasmosis, coccidiomycosis, blastomycosis, aspergillosis, and cryptococcosis are fungal infections that can lead to fungal pneumonia.

These

types

of

pneumonias

are

relatively

infrequent

in

the

United

States.

Other types of Pneumonia Organisms that have been exposed to strong antibiotics and have developed resistance are called nosocomial organisms. If they enter the lungs, a person may develop nosocomial pneumonia. Resistant bacteria are often found in nursing homes and hospitals. An example is MRSA, or methicillin-resistant Staph aureus, which can cause skin infections as well as pneumonia. Similarly, outbreaks of the H5N1 influenza (bird flu) virus and severe acute respiratory syndrome (SARS) have resulted in serious pneumonia infections.

Risk factors

Some people are more likely than others to develop pneumonia. Individuals at higher risk include those who smoke, abuse alcohol, have other medical conditions like HIV/AIDS or recently recovered from a cold or influenza infection or malnourished.

Symptoms of pneumonia Common symptoms include: Cough Rusty or green mucus (sputum) coughed up from lungs, Fever, Fast breathing and shortness of breath, Chest pain, Nausea and vomiting and Headache etc

Diagnosis of pneumonia

A pneumonia diagnosis usually begins with a physical exam and a discussion about your symptoms and medical history. Chest x-rays, analysis of sputum and blood tests are usually recommended.

about your symptoms and medical history. Chest x-rays, analysis of sputum and blood tests are usually

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Treatment of Pneumonia

Pneumonia treatments depend on the type of pneumonia and the severity of symptoms. Bacterial pneumonias are usually treated with antibiotics, whereas viral pneumonias are treated with rest and plenty of fluids. Fungal pneumonias are usually treated with antifungal medications. Over-the-counter medications are also commonly prescribed to better manage pneumonia symptoms. These include treatments for reducing fever, reducing aches and pains, and suppressing coughs. In addition, it is important to get plenty of rest and sleep and drink lots of fluids.

Prevention of Pneumonia

In addition to vaccinations, physicians recommend that people wash hands, refrain from smoking, eat healthfully, exercise, and stay away from sputum or cough particles from others with pneumonia. The pneumonia vaccine may not completely prevent older adults from getting pneumonia, but it can reduce the severity of a future pneumonia.

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Tuberculosis Tuberculosis (TB) is second only to HIV/AIDS as the greatest killer worldwide due to
Tuberculosis
Tuberculosis (TB) is second only to HIV/AIDS as the greatest killer
worldwide due to a single infectious agent.
Causative agent
Tuberculosis (TB) is caused by bacteria (Mycobacterium tuberculosis)
that most often affect the lungs. Tuberculosis is curable and
preventable.
Mode of transmission
TB is spread from person to person through
the air. When people with lung TB cough,
sneeze or spit, they propel the TB germs into
the air. A person needs to inhale only a few of
these germs to become infected. Tuberculosis
mostly affects young adults, in their most
productive years. However, all age groups are
at risk.
Symptoms and diagnosis
Common symptoms of active lung TB are cough with sputum and blood at times, chest pains,
weakness, weight loss, fever and night sweats. Generally Sputum smear microscopy is used to
diagnose TB.
Treatment
TB is a treatable and curable disease. Active, drug-sensitive TB disease is treated with a standard six-
month course of four antimicrobial drugs that are provided with information, supervision and support
to the patient by a health worker or trained volunteer.
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Molecular Biology

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Molecular Biology

Genetic information, stored in the chromosomes and transmitted to daughter cells through DNA replication, is expressed through transcription to RNA and, in the case of messenger RNA (mRNA), subsequent translation into proteins (polypeptide chains).

subsequent translation into proteins (polypeptide chains). STRUCTURE OF DNA DNA is a polymer of deoxyribonucleoside

STRUCTURE OF DNA DNA is a polymer of deoxyribonucleoside monophosphates covalently linked by 3'→5'– phosphodiester bonds. With the exception of a few viruses that contain single-stranded (ss) DNA, DNA exists as a double stranded (ds) molecule, in which the two strands wind around each other, forming a double helix. In eukaryotic cells, DNA is found associated with various types of proteins (known collectively as nucleoprotein) present in the nucleus, whereas in prokaryotes, the proteinDNA complex is present in a non-membrane-bound region known as the nucleoid.

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Phosphodiester bonds

A nucleotide is composed of three parts: a nitrogen

containing (nitrogenous) base, a five-carbon sugar (a pentose), and one or more phosphate groups. To distinguish the numbers of the sugar carbons from those used for the ring atoms of the attached nitrogenous base, the sugar carbon numbers of a nucleoside or nucleotide have a prime (′) after them. Phosphodiester bonds join the 3'-hydroxyl group of the deoxy pentose of one nucleotide to the 5'-hydroxyl group of the deoxy pentose of an adjacent nucleotide through a phosphate group. The resulting long, unbranched chain has polarity, with both a 5'-end (the end with the free phosphate) and a 3'-end (the end with the free hydroxyl) that is not attached to other nucleotides. In the double helix, the two chains are coiled around a common axis called the axis of symmetry. The chains are paired in an anti-parallel manner, that is, the 5'-end of one strand is paired with the 3'-end of the other strand.

strand is paired with the 3'-end of the other strand. In the DNA helix, the hydrophilic

In the DNA helix, the hydrophilic deoxyribosephosphate backbone of each chain is on the outside of

the molecule, whereas the hydrophobic bases are stacked inside. The overall structure resembles a twisted ladder. The bases of one strand of DNA are paired with the bases of the second strand, so that an adenine is always paired with a thymine and a

cytosine is always paired with a guanine. The two strands of the double helix separate when hydrogen bonds between the paired bases are disrupted. Disruption can occur in the laboratory if the pH of the

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DNA solution is altered so that the nucleotide bases ionize, or if the solution is heated.

Eukaryotes have closed circular DNA molecules in their mitochondria, as do plant chloroplasts. A prokaryotic organism typically contains a single, double-stranded, supercoiled, circular chromosome. Each prokaryotic chromosome is associated with non-histone proteins that can condense the DNA to form a nucleoid.

Each prokaryotic chromosome is associated with non-histone proteins that can condense the DNA to form a

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DNA Replication or Synthesis of DNA

When the two strands of the DNA double helix are separated, each can serve as a template for the replication of a new complementary strand. This produces two daughter molecules, each of which contains two DNA strands with an antiparallel orientation. This process is called replication of DNA. The enzymes involved in the DNA replication process are template-directed polymerases that can synthesize the complementary sequence of each strand with extraordinary fidelity. Overall replication process involves following steps:

Separation of the two complementary DNA strands Two strands of the parental double helical DNA separate over a small region, because the polymerases use only ssDNA as a template. DNA replication begins at unique nucleotide sequencea site called the origin of replication This site includes a short sequence composed almost exclusively of AT base pairs that facilitate melting. In eukaryotes, replication begins at multiple sites along the DNA helix whereas in prokaryotes there is a single site for DNA replication origin.

there is a single site for DNA replication origin. Formation of the replication fork As the

Formation of the replication fork As the two strands unwind and separate, they form a ―V‖ where active synthesis occurs. This region is called the replication fork. It moves along the DNA molecule as synthesis occurs. Replication of dsDNA is bidirectionalthat is, the replication forks move in opposite directions from the origin.

Replication of dsDNA is bidirectional — that is, the replication forks move in opposite directions from

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Initiation of DNA replication requires the recognition of the origin of replication by a group of proteins that form the pre-priming complex. These proteins are responsible for maintaining the separation of the parental strands, and for unwinding the double helix ahead of the advancing replication fork.

Helicases are the enzymes which bind to ssDNA near the replication fork, and then move into the

neighboring double stranded region, forcing the strands apartin effect, unwinding the double helix. Helicases require energy provided by ATP.

the double helix. Helicases require energy provided by ATP. DNA topoisomerases are the enzymes which remove

DNA topoisomerases are the enzymes which remove the supercoiling of parent DNA strand and help in unwinding of DNA. The DNA polymerases responsible for copying the DNA templates are only able to ―read‖ the parental

nucleotide sequences in the 3'→5' direction, and they synthesize the new DNA strands only in the 5'→3' (antiparallel) direction. Therefore, beginning with one parental double helix, the two newly synthesized stretches of nucleotide chains must grow in opposite directions—one in the 5'→3' direction toward the replication fork and one in the 5'→3' direction away from the replication fork.

Leading and Lagging strands The strand that is being copied in the direction of the advancing replication fork is called the leading strand and is synthesized continuously. The strand that is being copied in the direction away from the replication fork is synthesized discontinuously, with small fragments of DNA being copied near the replication fork. These short stretches of discontinuous DNA, termed Okazaki fragments, are eventually joined (ligated) to become a single, continuous strand. The new strand of DNA produced by this mechanism is termed the lagging strand.

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Transcription-Synthesis of RNA from DNA

The process of transcription of a typical gene can be divided into three phases: initiation, elongation, and termination.

into three phases: initiation, elongation, and termination. Initiation Transcription begins with the binding of the

Initiation Transcription begins with the binding of the RNA polymerase holoenzyme to a region of the DNA known as the promoter, which is not transcribed. The holoenzyme moves to the site of initial DNA melting (unwinding). Melting of a short stretch (about 14 bases) converts the closed complex to an open one known as a transcription bubble.

Elongation Once the promoter region has been recognized and bound by the holoenzyme, local unwinding of the DNA helix continues, mediated by the polymerase. RNA polymerase begins to synthesize a transcript of the DNA sequence, and several short pieces of RNA are made and discarded. The elongation phase is said to begin when the transcript (typically starting with a purine) exceeds ten nucleotides in length. As with replication, transcription is always in the 5'→3' direction. In contrast to DNA polymerase, RNA polymerase does not require a primer and does not appear to have proofreading activity.

Termination The elongation of the single-stranded RNA chain continues until a termination signal is reached. Termination can be intrinsic (spontaneous) or dependent upon the participation of a protein known as the ρ (rho) factor.

can be intrinsic (spontaneous) or dependent upon the participation of a protein known as the ρ

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Types of RNA molecules produced by transcription There are three major types of RNA that differ from each other in size, function, and special structural modifications:

Ribosomal RNA (rRNA), transfer RNA (tRNA), and messenger RNA. The mRNA carries genetic information from the nuclear DNA to the cytosol, where it is used as the template for protein synthesis.

Prokaryotic DNA transcription produces messenger RNA, which is necessary for transfer from the cell nucleus to the cytoplasm where translation occurs.

In contrast, eukaryotic DNA transcription takes place in a cell's nucleus and produces what is

called a primary RNA transcript or pre-messenger RNA. Before eukaryotic products of transcription can be moved into the cytoplasm, they must undergo modifications that allow them to become mature messenger RNA. In eukaryotes, introns are the intervening sequences which do not code for protein from the primary transcript while exons are the coding sequences. Maturation of eukaryotic mRNA usually involves the removal of intron sequences. Exons are joined together to form the mature mRNA.

Post-transcriptional changes in mRNA molecule

Splicing: The process of

removing introns and joining exons is called splicing. The molecular complex that accomplishes these tasks is known as the spliceosome.

that accomplishes these tasks is known as the spliceosome.  Special structural characteristics of eukaryotic (but

Special structural characteristics of eukaryotic (but not prokaryotic) mRNA include a long

sequence of adenine nucleotides (a ―poly-A tail‖) on the 3'-end of the RNA chain, plus a ―cap‖ on the

5'-end consisting of a molecule of 7-methylguanosine.

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Post-transcriptional changes in mRNA molecule in eukaryotes

Translation of mRNA or Protein synthesis The pathway of protein synthesis is called translation because the ―language‖ of the nucleotide sequence on the mRNA is translated into the ―language‖ of an amino acid sequence. The process of translation requires a genetic code, through which the information contained in the nucleic acid sequence is expressed to produce a specific sequence of amino acids. Any alteration in the nucleic acid sequence may result in an incorrect amino acid being inserted into the polypeptide chain, potentially causing disease or even death of the organism. Newly made proteins undergo a number of processes to achieve their functional form. They must fold properly, and misfolding can result in degradation of the protein. Finally, proteins are targeted to their final intra- or extracellular destinations by signals present in the proteins themselves.

The genetic code The genetic code is a dictionary that identifies the correspondence between a sequence of nucleotide bases and a sequence of amino acids. Each individual ―word‖ in the code is composed of three bases. These genetic words are called codons. There are 4 different nucleotides and 64 codons which determine the amino acids in a protein in a sequence. For example, the codon 5'-AUG-3' codes for methionine. Sixty-one of the 64 codons code for the 20 common amino acids. Three of the codons, UAG, UGA, and UAA, do not code for amino acids, but rather are termination codons. When one of these codons appears in an mRNA sequence, synthesis of the polypeptide coded for by that mRNA stops.

When one of these codons appears in an mRNA sequence, synthesis of the polypeptide coded for

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Components required for translation

A large number of components are required for the synthesis of a protein. These include all the amino

acids that are found in the finished product, the mRNA to be translated, transfer RNA (tRNA) for each of the amino acids, functional ribosomes, energy sources, and enzymes, as well as protein factors needed for initiation, elongation, and termination steps of polypeptide chain synthesis.

1. Amino acids

All the amino acids that eventually appear in the finished protein must be present at the time of

protein synthesis. This demonstrates the importance of having all the essential amino acids in sufficient quantities in the diet to ensure continued protein synthesis.

2. Transfer RNA

At least one specific type of tRNA is required for each amino acid. In humans, there are at least 50

species of tRNA, whereas bacteria contain 3040 species. Because there are only 20 different amino acids commonly carried by tRNA, some amino acids have more than one specific tRNA molecule. This is particularly true of those amino acids that are coded for by several codons.

3. Aminoacyl-tRNA synthetases

This family of enzymes is required for attachment of amino acids to their corresponding tRNAs. Each

member of this family recognizes a specific amino acid and all the tRNAs that correspond to that amino acid. Aminoacyl-tRNA synthetases catalyze a two-step reaction that results in the covalent attachment of the carboxyl group of an amino acid to the 3'-end of its corresponding tRNA.

4. Messenger RNA

The specific mRNA required as a template for the synthesis of the desired polypeptide chain must be

present.

5. Functionally competent ribosomes

Ribosomes are large complexes of protein and ribosomal RNA.

Structure:

Riosomes consist of two subunitsone large and one smallwhose relative sizes are given in terms

of their sedimentation coefficients, or S (Svedberg) values.

The prokaryotic 50S and 30S ribosomal subunits together form a 70S ribosome.

The eukaryotic 60S and 40S subunits form an 80S ribosome.

Function of small sub unit: The small ribosomal subunit binds mRNA and is responsible for the accuracy of translation by ensuring correct base-pairing between the codon in the mRNA and the anticodon of the tRNA.

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Function of large sub unit: The large ribosomal subunit catalyzes formation of the peptide bonds that link amino acid residues in a protein.

Binding sites: The ribosome has three binding sites for tRNA moleculesthe A, P, and E siteseach of which extends over both subunits. Together, they cover three neighboring codons.

During translation, the A site binds an incoming aminoacyl-tRNA as directed by the codon

currently occupying this site. This codon specifies the next amino acid to be added to the growing peptide chain.

The P-site codon is occupied by peptidyl-tRNA. This tRNA carries the chain of amino acids that

has already been synthesized.

The E site is occupied by the empty tRNA as it is about to exit the ribosome. In eukaryotic cells, the ribosomes are either ―free‖ in the cytosol or are in close association with the endoplasmic reticulum (which is then known as the ―rough‖ endoplasmic reticulum, or RER).

reticulum (which is then known as the ―rough‖ endoplasmic reticulum, or RER). Structure of ribosomal assembly

Structure of ribosomal assembly

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Steps in protein synthesis

1. Initiation

Initiation of protein synthesis involves the assembly of the components of the translation system before peptide bond formation occurs. These components include the two ribosomal subunits, the mRNA to be translated, the aminoacyl-tRNA specified by the first codon in the message, and initiation factors that facilitate the assembly of this initiation complex. Initiation codon The initiating AUG is recognized by a special initiator tRNA. The charged initiator tRNA enters the P site on the small subunit. The large ribosomal subunit then joins the complex, and a functional ribosome is formed with the charged initiating tRNA in the P site, and the A site empty.

2. Elongation

Elongation of the polypeptide chain involves the addition of amino acids to the carboxyl end of the growing chain. During elongation, the ribosome moves from the 5' -end to the 3'-end of the mRNA that is being translated. The formation of the peptide bond is catalyzed by peptidyl transferase, an activity intrinsic to the 23S rRNA found in the large (50S) ribosomal subunit. [Note: Because this rRNA catalyzes the reaction, it is referred to as a ribozyme.] After the peptide bond has been formed, what was attached to the tRNA at the P site is now linked to the amino acid on the tRNA at the A site. The ribosome then advances three nucleotides toward the 3'-end of the mRNA.

then advances three nucleotides toward the 3'-end of the mRNA. Polypeptide chain elongation 3. Termination 108

Polypeptide chain elongation

3. Termination

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then advances three nucleotides toward the 3'-end of the mRNA. Polypeptide chain elongation 3. Termination 108
Termination occurs when one of the three termination codons moves into the A site. These

Termination occurs when one of the three termination codons moves into the A site. These codons are UAA and UAG, and UGA. The binding of these release factors results in hydrolysis of the bond linking the peptide to the tRNA at the P site, causing the nascent protein to be released from the ribosome. Translation begins at the 5'-end of the mRNA, with the ribosome proceeding along the RNA molecule. Because of the length of most mRNAs, more than one ribosome at a time can translate a message. Such a complex of one mRNA and a number of ribosomes is called a polysome or polyribosome.

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Chromosomes and Genes

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Chromosomes and Genes

Chromosomes

In the nucleus of each cell, the DNA molecule is packaged into rod-shaped structures called

chromosomes.

A chromosome is a long, stringy aggregate of genes that carries heredity information (DNA),

which is tightly coiled many times around proteins called histones that support its structure. Chromosomes are the essential unit for cellular division and must be replicated, divided, and passed successfully to their daughter cells so as to ensure the genetic diversity and survival of

their progeny.

The normal human chromosome complement consists of 46 chromosomes comprising 22 morphologically different pairs or homologs of autosomes and one pair of sex chromosomes

Somatic cells called diploid. (2n)≡ (23*2)

Sex Cells - also known as gametes contain half the number of chromosomes as body cells and are called haploid.

Sex chromosomes, are called X and Y. Females have two X chromosomes, while males have one

X and one (smaller) Y chromosome. This fact means that sperm are of two different types: half

will have an X chromosome and half a Y chromosome. But eggs all carry X chromosomes.

and half a Y chromosome. But eggs all carry X chromosomes. Chromatid Nuclear chromosomes are packaged

Chromatid Nuclear chromosomes are packaged by proteins into a condensed structure called chromatin. Each Chromosome has two symmetrical chromatid joined at a centromere; Chromatids are either sister chromatids or non-sister chromatids. Out of these sister chromatids originate from single (only one) chromosome while non-sister chromatids are derived from homologous chromosomes. Karyotype

A karyotype is a picture of a person's (or fetus) chromosomes. A karyotype is often done to

determine if the offspring has the correct number of chromosomes.

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Alterations in chromosomes Alterations in either structural or in the number of the chromosomes frequently

Alterations in chromosomes Alterations in either structural or in the number of the chromosomes frequently results in significant mental and/or clinical abnormalities. And may involve more than one chromosome.

Numerical abnormalities

Ideally, chromosomes distributes to daughter cells during cell division without error. But there is an occasional accident, called a nondisjunction; the failure of chromosomes to disjoin from each other during cell division,

During meiosis I the members of a pair of homologous chromosomes do not move apart properly.

During meiosis II sister chromatids fail to separate.

In these cases, one gamete receives two of the same type of chromosome and another gamete receives no copy. If either of the aberrant gametes unites with a normal one at fertilization, the offspring will have an abnormal number of a particular chromosome, a condition known as aneuploidy. If the organism survives, it usually has a set of symptoms

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If a chromosome is present in triplicate in the fertilized egg (so that the cell has a total of 2n + 1 chromosomes), the aneuploid cell is said to be trisomic for that chromosome.

If a chromosome is missing (so that the cell has 2n − 1 chromosomes), the aneuploid cell is monosomic for that chromosome.

Nondisjunction can also occur during mitosis. Then the aneuploid condition is passed along by mitosis to a large number of cells and is likely to have a substantial effect on the organism. The general term for this chromosomal alteration is polyploidy, with the specific terms triploidy (3n) and tetraploidy (4n) indicating three or four chromosomal sets, respectively. One way a triploid cell may be produced is by the fertilization of an abnormal diploid egg produced by nondisjunction of all its chromosomes. Polyploidy is fairly common in the plant kingdom. In general, polyploids are more nearly normal in appearance than aneuploids.

Disorders due to aneuploidy

Down syndrome is usually the result of an extra chromosome 21, so that each body cell has a total of 47 chromosomes. Because the cells are trisomic for chromosome 21, Down syndrome is often called trisomy 21. Down syndrome includes characteristic facial features, short stature, heart defects, susceptibility to respiratory infection, and mental retardation. Although people with Down syndrome, on average, have a life span shorter than normal, some live to middle age or beyond. Most are sexually underdeveloped and sterile. The frequency of Down syndrome increases with the age of the mother, the correlation of Down syndrome with maternal age has not yet been explained. Most cases result from nondisjunction during meiosis I, and some research points to an agedependent abnormality in a meiosis.

I, and some research points to an age – dependent abnormality in a meiosis. Nondisjunction of

Nondisjunction of sex chromosomes

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An extra X chromosome in a male, producing XXY, occurs approximately once in every 2,000 live births. People with this disorder, called Klinefelter syndrome, have male sex organs, but the testes are abnormally small and the man is sterile. Some breast enlargement and other female body characteristics are common. The affected individual is usually infertile and have mild mental retardation.

Males with an extra Y chromosome (XYY) do not exhibit any welldefined syndrome, but they tend to be somewhat taller than average.

Females with trisomy X (XXX), which occurs once in approximately 1,000 live births, are healthy and cannot be distinguished from XX females except by karyotype.

Monosomy X, called Turner syndrome, occurs about once in every 5,000 births and is the only known viable monosomy in humans. Although these X0 individuals are phenotypically female, they are sterile because their sex organs do not mature. Most have normal intelligence

Structural abnormalities Errors in meiosis or damaging agents such as radiation can cause breakage of a chromosome, which can lead to four types of changes in chromosome structure called structural aberrations (breaks) which frequently alter chromosome morphology.

Deletions result in loss of chromosome fragment from a single chromosome. The affected chromosome is then missing certain genes. Many deletions in human chromosomes cause severe problems.

Duplication: a ―deleted‖ fragment may become attached as an extra segment to a sister chromatid, alternatively, a detached fragment could attach to a nonsister chromatid of a homologous chromosome.

sister chromatid, alternatively, a detached fragment could attach to a nonsister chromatid of a homologous chromosome.

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In that case, though, the ―duplicated‖ segments might not be identical because the homologues could carry different alleles of certain genes.

Inversion: chromosomal fragment may also reattach to the original chromosome but in the reverse orientation.

Translocation: fragment join a nonhomologous chromosome, Chromosomal translocations have been implicated in certain cancers, including chronic myelogenous leukemia (CML). Leukemia is a cancer affecting the cells that give rise to white blood cells. In these cells, the exchange of a large portion of chromosome 22 with a small fragment from a tip of chromosome 9 produces a much shortened, easily recognized chromosome 22, called the Philadelphia chromosome.

chromosome 22, called the Philadelphia chromosome. Genes Genes are segments of DNA located on chromosomes .

Genes

Genes are segments of DNA located on chromosomes. They are the basic physical and functional units of heredity that has been defined as the unit of genetic information that controls a specific aspect of the phenotype.

Locus is a gene‘s specific location along the length of a chromosome the gene‘s (plural, loci; from the Latin, meaning ―place‖).

An allele is an alternative form of gene (one member of a pair) different forms of a gene at one chromosome.

Phenotype, The physical appearance (observable) or biochemical characteristic of an organism, for example, skin color, height, etc.

Genotype: The specific pair of alleles present at a single locus. This are features seen genetically but may or may not have phenotypic (observable) characteristics.

Homozygous: individual with two identical alleles.

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