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GIM > Pharmacogenetics > Flashcards

Pharmacogenetics Flashcards

1
Q

define genomics

A

relating to the genome

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2
Q

define pharmacokinetics

A

how the body affects the drug

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3
Q

define pharmacodynamics

A

how the drug affects the body

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4
Q

define stratified medicines

A

Selecting therapies for groups of patients with shared biological characteristics

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5
Q

define personalised medicine

A

therapies which are tailored to the individual

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6
Q

define germline mutation

A

hereditary mutation

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7
Q

define somatic

A

acquired mutation

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8
Q

what genetic variations affect drugs.

A 
deletion/insertion
SNP’s
Gene amplification
Promoter polymorphisms
Translocations
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9
Q

How do genetic variations cause change in the drugs used to treat conditions

A

change the protein activity of structure which leads to altered treatment outcomes.

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10
Q

what factors of drug action do genetic variations cause

A

absorption, activation, altered target, catabolism and excretion.

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11
Q

How can knowing genetic variation help with providing treatment.

A

Identify genetic variations that lead to altered outcomes
Change dose of drug where appropriate
Use a different drug that works better and/or has reduced toxicity
Guide new targeted drug development
Stratified/personalised medicine
Reduce financial costs of inappropriate treatment

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12
Q

what is the function of Thiopurine methyltransferase

A

inactivates certain drugs.

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13
Q

what drug commonly used as a immunosuppressant used in organ transplantation and autoimmune disease does thiopurine methyltransferase inactivate

A

azathiopurine.

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14
Q

SNP in thiopurine methyltransferase has what effects

A

azathioprine as it isn’t being inactivated.

Severe toxicity if both copies of the gene have the variant

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15
Q

what is the function of N- acetyltransferase activity.

A

inactivates drugs

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16
Q

in which organ are N- acetyltransferases found

A

liver

17
Q

by what method do N- acetyltransferases inactivate drugs

A

acetylation

18
Q

why do N- acetyltransferases have both fast and slow acetylators.

A

“Fast” and “slow” acetylators – due to SNP variations in genes

19
Q

what side effects do slow acetylators have

A

neuritis and liver toxicity

20
Q

what occupation have slow aceylators

A

farmers

21
Q

what occupation have fast aceylators

A

communities dependent on meat.

22
Q

what is the effect of Succinylcholine

A

relaxes all muscles and hence prevent you from breathing.

23
Q

what gene mutation causes the effects of Succinylcholine to last for more than an hour increasing the risk of death

A

BCHE gene

24
Q

what medication is succinylcholine used in

A

anaesthethics

25
Q

Which gene and at what location does the mitochondrial DNA mutation cause problems.

A

Mitochondrial MT-RNR1 gene encodes mitochondrial 12s rRNA

G>A mutation at nucleotide position 1555 causes non-syndromic hearing loss.

26
Q

what antibiotic is more likely to bind to the new mitochondrial mutation resulting in early hearing difficulties

A

aminoglycoslides.

27
Q

Is the Mitochondrial MT-RNR1 gene maternally or paternally inherited

A

mitochondria- maternally.

28
Q

what molecule does warfarin inhibit

A

VKOR.

29
Q

why does warfarin dosage vary 20x between individuals (variations in which 2 genes)

A

due to variation in genotyping of CYP2C9 (one of the cytochrome p450 family) and vitamin K oxidoreductase complex-1 (VKORC1)

30
Q

Are cancer mutations germline or somatic

A

somatic

31
Q

what disease is Trastuzumab (Herceptin) used to treat

A

breast cancer

32
Q

what receptor is commonly over expressed in breast cancer and is targeted by the drug perception (trastuzumab) which is a monoclonal antibody

A

HER2 receptor

33
Q

what gene does most melanomas have a mutation in

A

BRAF gene- val to glu.

34
Q

what drug can target the BRAF gene in melanomas

A

Vemurafenib

GIM (14 decks)

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