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BASIC MECHANISM DISEASE

cell metabolism

Rosdiana Natzir
( Department of Medical-Biochemistry
International Class )

References

Harpers biochemistry
Rawn International Biochemistry
Stryers biochemistry
Montgomery et.all, biochemistry a case - oriented
approach textbook.
Dannys Brook of molecular biology of the cell.
Textbook Molecular cell biology of David Baltimore
Etc.

Introduction
Biochemistry and Medicine :
Definition :
Medical Biochemistry is the science
concerned
with the various molecules and their
chemical reactions that occur in living
cells
and organism.

2 central concerns of health sciences


1. the understanding of health and maintenance of
health

2. the understanding of disease and effective


treatment of disease.

To achieve these objectives, biochemist have to

Isolate the nomerous molecules found in cells.

Determine their structures

Analyze how their functions.

Example : molecular basis of contractility of


muscle/muscle cell.

Example : molecular basis of contractility of muscle


/muscle cell.

Many molecules in muscle cell---> isolate : primer


or complex ----proteins.

Structure of their molecules

Functions of each structures.


( ATP; proteins : actin,myosin, actomyosin;
calcium; regulation of contraction ).

to

understand how life began --->


as wide as life itself --->
chemical processes occur wherever there
are life.

Normal biochemical processes are the


basis of health. (WHO) and one major
prerequisite for the maintenance of
health ---> optimal dietary intake of a
number of chemicals.---> or as a
preventive medicine.--->

For example the prevention of atherosclerosis and


cancer --- all excessive dietary fat as
promoters with their associated neoplasms in
humans.
---> study of nutrition.
Biochemistry is essential to all life sciences :
1.
Nutrition
7. toxicology
2.
Medicine
8. pathology
3.
Genetics
9. microbiology
4.
Physiology
10. zoology
5.
Immunology
11. botany
6.
Pharmacology and pharmacy

Another examples related to neoplasms


chemical carcinogenesis
( in 3 stages : initiation-promotion-progession )

Initiating agents : ionizing radiation --- somatic mutation


alter tha native molecular structure of DNA.

Promoting agents : Asbestos --- brochogenic carcinoma

Synthetic estrogens : liver adenomas

Alcoholic beverages : oral / liver / esophageal cancer.

Progression stage : a karyotype change from diploid to


aneuploid---associated with metastasis and morphologic
changes.

All disease has a biochemical basis :


the major causes of diseases.

Physical agent: mechanical trauma; extremes of


temperature; electric shock; radiation; atmopheric pressure.
Chemical agents and drugs.
biologic agents: virus ; bacteria; fungus.
Oxygen lack.
Genetics: -albinism/ melanin.
Imunologic reaction :- PLA2 released-allergic.
Nutritional imbalance :- kwashiorkor; marasmus.
Endocrine imbalance :- hormone insulin Diabetic mellitus.

Several samples causes to influences various biochemical


mechanisms in cell or in the body :

Vitamins---> deficiences.
Amino acids ---> kwashiorkor
Fatty acids ---> atherosclerosis
PKU=phenylketonuria ---> severe mental
retardation
Genetic disease ---> cystic fibrosis ( abnormally
viscous secretion of sweat gland ).
Bacterial disease ---> cholera.
Transmitted parasite ---> malaria.

Biochemistry ---> basic mechanism diseases


correlated to system.

Musculosceletal system :
> vitamine C deficiency ( Scurvy )disorder of
synthesis of collagen.
> gout disease or osteoarthritis disease
catabolism
of purine

. Gastrointestinal system :
> deficiency of enzyme
. Immunology system : Agammaglobulinemia.

. Metabolic-endocrine system : diabetes


mellitus; hyperthyroidea.
. Acid-base balance in respiratory and renal
function system.
. Hematology system : synthesis of heme.
. Catabolism and excretion system : various
components ( amonia; urea; uric acid ).

Site Major intracelluler organelles

Nucleus : DNA - site of chromosome and


transcription .
Mitochondrion : Glutamic dehydrogenase
citric acid cycle ; oxidative phosphorylation.
Ribosome : High content of RNA translation of
m RNA to protein.
Endoplasmic reticulum : glucose-6-phosphatase
synthesis of lipids ; oxidation of many
xenobiotics.
Lysosomes : acid phosphatase site of many
hydrolases.

Plasma membrane : Na+K+,ATP-ase transport


molecules.
Golgy apparatus : galactosyl transferase
glycosilation reaction; sulfation reaction.

Peroxisome : catalase degradation of fatty


acids; amino acids. Uric acids oxidase
production and degradation of hydrogen peroxide.

Cytosol : lactate dehydrogenase glycolysis;


fatty acids synthesis.

Major component of complex organic


biomolecules of cells and tissues :

DNA and RNA


: genetic material.
Protein
: enzymes; contractile
elements.
Polysaccharides : short term storage of
energy
( glucose ).
Lipids
storage
triglycerides.

: membrane; long-term
of energy as

Metabolism of cell and tissues .

DNA-RNA and protein biosynthesis.--- -thalassemia; transmission of


herpes simplex virus .etc.
Enzyme and their biologic catalyzes site----- hepatitis; deficiency of
digestive enzymes.etc.
Nutrient requirements and metabolism ---- fat; carbohydrates; proteins;
amino acids; vitamins;
minerals.

( Blood ---- metabolism of hemoglobin;acid; base balance controle.


Carbohydrate Metabolism; Amino acid Metabolism; Lipid Metabolism;
cholesterol; lipoproteins; Membranes; signal
transduction;eicosanoids ).

*Protein structure.---- sickle cell anemia.

*Blood;hemoglobin;acid-base balance controle.


------ hemochromatosis; Toxic methemoglobinemia;
Narcotic overdosis; pulmonary embolism.
*Carbohydrate Metabolism.
------ diabetes mellitus; hereditary fructose intolerance;
hemolysis and glucose 6- phosphate
dehydrogenase
deficiency ( G6PD deficiency ).
*Amino acid Metabolism.
------ hereditary hyperammonemia; homocystinuria;
methylmalonic acidemia; gluthathionuria; defective
urea
cycle.

*Lipid Metabolism; cholesterol; lipoproteins.


Membranes; signal transduction;eicosanoids.
*Nucleotide Metabolism.
*Hormones
*Neurotransmitters.

Conclusion

Biochemical sciences ---- associated with medical


sciences ---- preventive, diseases and therapy ---understanding of pathophysiological and
biochemical mechanisms ( biochemical basic
sciences : enzymes , others protein, DNA, RNA, etc..
)

Next discussion :
Regulatory of enzyme
Protein : function related to their structures
Metabolism of nucleotides ; nucleic acid; amino
acids --- case and error metabolism
Metabolism of lipid and carbohydrate --- ( system of
endocrine and metabolism )

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