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MECHANISMS OF DISEASE
Professor:
HSS2305B
BLACKBOARD
LEARN
https://uottawa.blackboard.com/
WHO AM I?
http://health.uottawa.ca/people/menzies-keir
WHO AM I?
http:/www.keirmenzieslab.com
COURSE SYLLABUS
COURSE DESCRIPTION
At the molecular level how does a cell, tissue or organ function? How
can alterations in these molecular mechanisms result in the
development, manifestation and progression of disease?
LEARNING OBJECTIVES
By the end of this course students will be expected to:
1. Identify the fundamental concepts of molecular biology
a)
b)
c)
Define molecular biology and describe how it relates to the fields of cellular
biology, genetics and biochemistry
Identify the various organelles within a cell and describe how they collaborate to
perform vital cell functions
Summarize general mechanisms through which a cell can respond to, and interact
with its environment
LEARNING OBJECTIVES
By the end of this course students will be expected to:
3. Contrast how irregularities in the key molecular mechanisms of
cell function can give rise to pathological conditions
4. Compare the influence of biological, social and
environmental factors on key molecular mechanisms of cell
function
5. Identify key technological advances that have been made
possible through our detailed understanding of cellular and
molecular biology
a)
b)
c)
Identify and describe scientific techniques routinely used within the field of
molecular biology
Summarize the recent technological advances that have evolved into important
molecular screening tools and therapeutics
Describe the ethical considerations associated with several of these technological
REQUIRED TEXT
EVALUATIONS
Evaluation
Weight of
final grade
Due date
In Class Quiz # 1
10%
September 29
In Class Assignment #1
5%
November 1
35%
November 3
In Class Quiz # 2
10%
November 17
In Class Assignment #2
5%
November 22
Final Exam
35%
** Policy
on Missed Evaluations:
The dates listed above will not be changed for any reason. There will be no makeups scheduled unless a valid medical note is provided.
In class Quiz will be held during the first 20 min of class on the date indicated. If you are late
for class you will not be given the opportunity to re-write the quiz.
** The following are not valid reasons to miss any of the evaluations listed above:
My parents have booked me a train/plane ticket to go home and we cannot get our money back
I lost all of my notes
I have 3 other mid terms that week and wont have time to study
I couldnt access all of the readings
COURSE OUTLINE
COURSE OUTLINE
COURSE OUTLINE
Laptops/Internet
Use of laptops and internet in class is permitted, however please be respectful of
your fellow classmates and your professor. You can check Facebook at home,
the classroom is not place for this!
TEACHING APPROACH
INTRODUCTION TO
MOLECULAR BIOLOGY
CHAPTER 1
LEARNING
OBJECTIVES
Define molecular
biology
Explain how the field of molecular biology provides
understanding of how a cell functions when it is healthy and
conversely how it can explain the onset of disease
Identify key functions of a cell
Compare and contrast eukaryotic vs. prokaryotic cells
Identify important organelles and their functions in a eukaryotic
cell
Explain cellular differentiation and how this can be harnessed in
cell replacement therapy
Explain key concepts related to biology of viruses and how they
can be used therapeutically
Identify model organisms for the study of molecular biology
WHAT IS
MOLECULAR
BIOLOGY?
WHAT IS
MOLECULAR
BIOLOGY?
explores cells, their characteristics,
parts, and chemical processes
how molecules control a cells
activities and growth
pathways that provide the cells with
energy, facilitate processing
messages from outside the cell
itself, generate new proteins, and
replicate the cellular DNA genome
understanding the interactions
between the various systems of a
cell
WHAT IS
MOLECULAR
BIOLOGY?
The field overlaps with other areas of biology and
chemistry, particularly genetics and biochemistry
WHAT IS
MOLECULAR
BIOLOGY?
understand how a healthy cell functions and how
disease begins to manifest in a cell at the molecular
level
Mysterious Black
Box
WHAT IS
MOLECULAR
BIOLOGY?
Yielded powerful techniques and tools which have
revolutionized diagnostics and treatment strategies
http://youtu.be/1N5kykm7054
WHAT IS
MOLECULAR
BIOLOGY?
Yielded powerful techniques and tools which have
revolutionized diagnostics and treatment strategies
WHAT IS
MOLECULAR
BIOLOGY?
To understand the molecular machinery that runs a cell one
must have a solid understanding of basic cell biology
REVIEW OF
CELLULAR BIOLOGY
Cells:
Smallest unit of life
Whole cells can be removed from an organism and grown in a
lab
REVIEW OF
CELLULAR BIOLOGY
Cells:
Are highly complex and organized
Cellular activities highly controlled and remarkably precise
Less than 1 mistake/10 million nucleotides
incorporated
High degree of conservation in cellular organization and
function across species ex. A muscle cell wont look
like or be the shape of a liver cell
Molecular biology studies the complexities of cellular
machinery in action
REVIEW OF
CELLULAR BIOLOGY
Cells:
Possess a genetic program and the means to use it
Cells built according to a collection
of genes
Genes are the blueprint for:
Cellular structure
Directions for running of cellular
activities
Program for cellular replication
REVIEW OF
CELLULAR BIOLOGY
Cells:
Are capable of reproducing
REVIEW OF
CELLULAR BIOLOGY
Cells:
Acquire and utilize energy
Every biological
process requires
energy
Most energy goes
to breaking down
and rebuilding
macromolecules
and organelles
turnover
REVIEW OF
CELLULAR BIOLOGY
Cells:
Carry out a variety of chemical reactions
Most functions of a cell are carried out through chemical
reactions
All chemical reactions in a cell require enzymes
Molecules that greatly increase the rate of chemical
reactions
Cellular metabolism = sum of chemical reactions
REVIEW OF
CELLULAR BIOLOGY
Cells:
Engage in mechanical activity
Result of dynamic mechanical changes within a cell motor
proteins
Transport materials intracellular
Assemble and de-assemble structures
Cellular motility
REVIEW OF
CELLULAR BIOLOGY
Cells:
Respond to stimuli
Receptors on cell surface respond to substances in their
environment in a very specific way
Hormones
Growth factors
Extracellular material
Receptors provide pathways through which external stimuli
can evoke specific responses in target cells
Alter metabolic activities
Cellular movement
Cell death
REVIEW OF
CELLULAR BIOLOGY
Cells:
Are capable of self-regulation
Cells are robust protected from dangerous fluctuations in
composition and behavior
Importance of this concept becomes apparent in disease
these regulatory mechanisms fail
REVIEW OF
CELLULAR BIOLOGY
Cellular activities as a sequential series of events or
chain reaction
REVIEW OF
CELLULAR BIOLOGY
2 types of living cells
Prokaryotes
Bacteria
Eukaryotes
Protists
Fungi
Plants
Animals
REVIEW OF
CELLULAR BIOLOGY
Distinguished by size and internal structures
REVIEW OF
CELLULAR BIOLOGY
EUKARYOTIC
CELL BIOLOGY
Nucleus
Chromatin DNA + proteins
Nucleolus produces ribosomes
Rough ER
synthesis of proteins
Smooth ER
synthesis of lipids and membrane proteins
Golgi complex
packaging macromolecules for transport
Mitochondria
provide the energy
Lysosomes
hydrolytic enzymes for intracellular digestion
Cytoskeleton
maintain cell shape, cell motility, intracellular transport
Plasma membrane
controlled entry and exit of cell, interaction
with environment
CELL SPECIALIZATION
Unicellular
eukaryotes
complex single-celled
organisms
Multicellular
eukaryotes
dierent cell
types for dierent
functions.
CELL SPECIALIZATION
Differentiation = less
specialized cell becomes
a more specialized cell
type
Occurs during embryonic
development
Despite differentiation,
cells have many features
in common.
USING MOLECULAR
BIOLOGY TO
HARNESS
DIFFERENTIATION
Cell Replacement
Therapy
Adult stem cells
Embryonic stem
(ES) cells
Inducible pluripotent
stem (iPS) cells
USING MOLECULAR
BIOLOGY TO
HARNESS
DIFFERENTIATION
USING MOLECULAR
BIOLOGY TO
HARNESS
DIFFERENTIATION
Cell Replacement
Therapy
Adult stem cells
Embryonic stem
(ES) cells
Inducible pluripotent
stem (iPS) cells
Synthetic biology
build a new cell de
novo
USING MOLECULAR
BIOLOGY TO
HARNESS
DIFFERENTIATION
http://igem.org/About
BASIC
PROPERTIES OF
Cells are commonly measured
CELLS
in units of micrometers (1 m =
106 meter) and nanometers (1
nm = 109 meter)
VIRUSES
pathogens
intracellular obligate
parasites not living
require cellular
machinery of host cell to
reproduce and
metabolize
outside a cell = virion
inanimate
macromolecular package
Genetic material (DNA,
RNA)
Protein capsule
VIRUSES
Viroids cause disease by interfering with gene expression
in host cells
Interact with host via surface receptors
Specificity for a certain host cell and species
Adenovir
Human
immunodecie
T-even
USING MOLECULAR
BIOLOGY TO
HARNESS VIRAL
INFECTIONS
Gene therapy
Use viruses as vectors to introduce therapeutic genes
into cells
USING MOLECULAR
BIOLOGY TO
HARNESS VIRAL
INFECTIONS
J.Cehajic-Kapetanovic (2015)
Current Biology 25 (16); 21112122
MODEL ORGANISMS
IN MOLECULAR
BIOLOGY
Escherichia coli
(bacterium)
Saccharomyces
(yeast)
C. elegans
(nematode)
Drosophila (fruit
y)
Arabidopsis (mustard
plant)
Mus musculus
(mouse)
MODEL ORGANISMS
IN MOLECULAR
BIOLOGY
https://youtu.be/Jj5QlYlE66w?list=PL94A4609B9C571458
QUESTIONS
?