Pharmacogenomics

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N-acetylase transferase is a drug metabolizing enzyme that inactivates

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Isoniazid and dapsone (45%-55% Caucasians, 10%-15% Africans)

#N.I.D

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How many genes code for CYP450 enzymes

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57 human genes

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Cytochrome P450 has how many families? Mention them

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18 families;CYP 1, 2, 3, 4, 5, 7, 8, 11, 17, 19, 20, 21, 24, 26, 27, 39, 46, 51

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The subfamilies of CYP450 involved in metabolism of most drugs are:

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•CYP2A6, •CYP2B6, •CYP2D6,•CYP2C9,•CYP2C19,•CYP2E1,•CYP3A4.

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Low levels of serotonin cause

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Depression (depressed mood)

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Serotonin function

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Responsible for feeling/mood of happiness and well-being (hence its absence causes depressed mood).It is also involved in cognition

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Antidepressants like Tricyclic Antidepressants (TCA)

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Inhibiting the reuptake of serotonin from the synaptic cleft so as to increase its Concentration and stop depression.

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Action of CYP3A4,5 on felodipine and nifedipine Is inhibited and induced by:

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Inhibited by Grapefruit juice (increasing felodipine levels)Induced by Glucocorticoids (decreasing felodipine levels faster)

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Administration of Antidepressant is based on

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TRIAL & ERROR . This is because biomakers that access effectiveness of the drugs arent utilised . Pharmacogenomics has proved useful.

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The most investigated cytochrome isoenzyme for antidepressant pharmacogenomics

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CYP2D6 (because it acts on / metabolizes antidepressant) Its Inducer is Dexamethasone , Its inhibitor is CPZ

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Codeine

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⇒ An opioid⇒ A prodrug that is metabolized by CYP2D6 to MORPHINE

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Tamoxifen is a prodrug converted to

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ENDOXIFEN by CYP2D6

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Cytochrome enzymes, substrate, inhibitor and inducers

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Serum pseudocholinesterase

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Causes respiratory paralysis with exposure to suxamethonium

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Huntington's disease

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•A neurodegenerative disease that is caused by a dominant allele (inherited)•Observed in people of age 30-40•Seen in 1 in 10,000 people.•It affects the muscles & one's mental orientation

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Cystic fibrosis

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It is an Inherited disease and is autosomal RECESSIVEIt is observed in 1 in 25 people . It is a respiratory disorder in which thick and sticky mucus is produced in the respiratory tract that clogs / block flow of air.

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Hemophilia

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aka hemoXphilia (X-linked recessive disorder)It is the inability of the blood to clot. It is recessive and X-linked. It is observed in 1 in 10,000 males and Is also called 'Royalty disease'

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What is Royalty disease

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Hemophilia

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Adenosine deaminase(ADA) deficiency

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Autosomal recessive . Causes immunodeficiency

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Mention the viruses employed in gene transfer therapy

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•H.A.A.RH ⇒ Herpes Simplex vinesA ⇒ AdenoVirusA⇒ Adeno-associated virusR ⇒ Retrovirus

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Of the viruses , which one affect many cells

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Adenovirus

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Which viruses integrate their genome into host cell genome

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2 of them:

•Adeno-associated virus(AAV)•Retrovirus # Herpes virus genome stays in its nucleus and infects majorly nerve cells