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The Major causes of deseases.

All of the causes listed act by influencing the various biochemical mechanisms in the cell or the body

1. Physical agents : mechanical trauma, extremes of temperatures,


sudden changes in atmospheric pressure, radiation, electrick shock.

2. Chemical agents, including drugs:certain toxic compounds


therapeutic drugs etc.

3. Biological agents : Viruses, ricketsiae, bacteriia, fungi, higher


forms of parasites.

4. Oxygen lack : Loss of blood supply, depletion of the oxygencarrying capacity of the blood, poisoning of the oxidative enzimes.

5. Genetic dissorders : Congenital, molecular. 6. Immunologic reactions : Anaphylaxis, auto immune deseases. 7. Nutritional imbalances : Deficiencies, excesses. 8. Endocrine imbalances : Hormonal deficiencies, excesses.

Interrelationship between Biochemistry and Medicine

Examples of the two-way street connecting biochemistry and medicine. Knowledge of the biochemical molecules shown in the top part of the diagram has clarified our understanding of the diseases shown in the bottom halfand conversely, analyses of the diseases shown below have cast light on many areas of biochemistry. Note that sickle cell anemia is a genetic disease and that both atherosclerosis and diabetes mellitus have genetic components.

Involvement of major intracellular organelles in various diseases


Organelles
Nucleus Mitochondrion

Deseases
Most genetic deseases
Several deseases including Lebers hereditary optic neuropathy and mitochondrial myopathies

Mechanisms
Mutations in DNAs
Mutation in mitoch. DNA encoding Enzyme NADH dehydrogenase Enzyme P450 of ER activate various chemicals to become toxic.

Endoplasmic reticulum Chemical toxicities, e.g.


following intake of CCl4

Golgi app.
Plasma membrane

I-cell deseases Metastases of cancer cells Lysosomal storage deseases


Zellwegers (cerebrohepato renal syndrome) etc. Changes in oligosaccharide in membrane glycoprotein Decreases activity of lyso somal hydolases enzyme

Lysosome

Peroxisome

Decreases activity of peroxi somal hydolases enzyme

The Major pathologic processes that occur in the Human body


Pathologic processes
Inflammation, acute or chronic Degeneration Enlargement of an organ (e. liver) Atrophy of an organ Anemia

One cause

Example of deseases

Example of Biomole cules involved


Mediators of inflammation (Pg, L) Ethanol Glucosylceramide

Infections, bacterial Pneumonia or viral Various chemicals Accumulation of a compound Diminished of blood supply Lack of vitamines or minerals Fatty Liver Gauchers deseases

Atrphy of kidney

Decrease of various nutrient supplied in the blood


Iron

Iron deficiency Anemia

The Major pathologic processes that occur in the Human body


Pathologic processes
Neoplasia

One cause
Irradiation

Example of deseases
Various Lekemia

Example of Biomole cules involved


DNA damage by irradiation

Cell death

Diminished of blood supply Often follow cell death

Myocardial infarction Cirrhosis

Lack of oxygen

Fibrosis

Accumulation of collagens

Formation of calculus

High local concentarion of a compound

Renal calculus in Gout

Uric acid

Example of 3 major classes of genetic deseases


Class
Chromosomal

example
Trisomy 21 Chronic myelogeous Leukemia Familial Hypercholeste rolemia Huntingtons Chorea Cystic Fibrosis Sickle cell Anemia PKU Hemophyllia Ischaemic Heart deseases

Comment
Prevalence increases wih maternal age Presence of Phyladelphia chromosome

Monogenic

Autosomal dominant, mutation in gene of LDL receptor Autosomal dominant, dx probe now availlable Autosomal recessive, defect in CFTR protein Autosomal recessive, defect in b globin gene Autosomal recessive, defect in Phe hydr X-linked, Defect in factor VIII synthesis DNA polymorphism of Lipoprotein genes ???

Multifactorial

genetic, cytogenetic, and physical maps of chromosome.

For the genetic map, the position of several hypothetical genetic markersare shown along with genetic distances in centimorgans between them. The circle shows position of the centromere. For the cytogenetic map, the classical banding pattern of a hypothetical chromosome is shown. For the physical map, the approximate physical locations of the above genetic markers are shown, along with the relative physical distances in mega basepairs (Mbp). Example of restriction map a contig map, and an STS map are also shown.

4 major classes of treatment strategies for genetic disseases


No
1. 2. 3.

Principle
Replase missing product Limit substrate Replace mutant enzyme Replace missing prottein Increase the activity of mutant enz by supplying exess coenzyme, By induction

Diseases
Familial Goiter PKU Gauchers ds Hemophyllia Mrthylmalonic aciduria Crigler-Najar syndrome

Comment
Adm. Of levothyroxin Low phe diet Inj. Of b glucosidase Inj. Of factor VIII (AHG) Injection of vit. B12

Inj. of Phenobarbital

4.

Replace deseased organ Galactosemia carrying defective gene by normal organ Introduce enzyme into the Many possible candidates cell by gene therapy

Liver transplantation

Clinical trial have been conducted in Cystic Fibrosis,

Criteria for Gene therapy

Progress in Molecular Medicine