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PCL201 > Lec 14 - Personalized Medicine and Pharmacogenetics > Flashcards

Lec 14 - Personalized Medicine and Pharmacogenetics Flashcards

1
Q

what factors affect drug response

A

genetics and environment

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2
Q

what is pharmacogenetics

A

how genetic factors influence response and tox for chemicals

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3
Q

what does a high INR mean? WHAT IS INR

A

international normalised ratio: high = longer time for blood to clot

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4
Q

what is the haploid genome? diploid?

A

haploid: sperm or egg 23 chromosomes, diploid = all 23 pairs

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5
Q

the four bases are

A

a c g t

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6
Q

t/f: 90% of dna is organized in genes

A

false, only 1-2%

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7
Q

genes encode for ___

A

proteins

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8
Q

a haplotype is

A

alleles found on same chromosome

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9
Q

what is a rare vs polymorphic variant

A

rare = variation in less than one percent of pop, polymorphic = cariations occur in more than one percent

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10
Q

how does nucleotide variation affect physical traits

A

variation affects genotype which influences phenotype

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11
Q

t/f: variations have the same cause

A

false; many genetic causes

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12
Q

types of large mutatiosn

A

deletions, insertion, duplication,inversion

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13
Q

types of point mutations

A

substitutions, frameshifts

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14
Q

what are SNPs

A

single nucleotide polymorphism; single substitutions

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15
Q

how many snps are in the human genome

A

10 million

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16
Q

frequency of polymorphic nucleotides

A

about 1 in every 500 nucleotides

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17
Q

how can snps be used as mapping markers

A

use them to mark certain gene differences, see how that influences disease states

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18
Q

will all patients with the same diagnosis respond to meds the same

A

no. non responders and toxic responders should be treated with alternative drugs or doses

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19
Q

contrast monogenic vs polygenic

A

monogenic is mutation in one gene, poly genic is mutation in multiple

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20
Q

rare vs polymorphic monogenic , vs polygenic distributions

A

rare: one normally distributed, small amount of the other phenotype

polymorphic: biomodal

polygenic: one broad distribution

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21
Q

how can a polymorphic gene affect drug response

A

gene has many variants, can make people good or bad metabolizers, can imapct drug levels, response, toxicity

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22
Q

when cyp2d6 is mutated debrisoquine leads to

A

orthostatic hypertension (the opp effect)

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23
Q

when cyp2d6 is mutated sparteine leads to

A

excess uterine contractions (normally oxytocic agent)

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24
Q

poor metabolisers of debrisq. had a higher ___ to ___ ratio

A

debrisq - 4hydroxybrisq

25
Q

codeine, dextromethorphan, and tamoxifen are all affected by polymorphism in CYP____

A

2d6

26
Q

poor metabolisers of codeine are unable to do what?

A

convert codeine into morphine

27
Q

how can you use dextromethorphan to predict cyp2d6 metabolism

A

dex is a safe in vivo probe; by seeing how much of it gets metabolised into des, you can see whether 2d6 is working

28
Q

what is the primary and secondary pathway of tamoxifen metabolism

A

primary: cyp3a to ndesmethyltam, cyp 2d6 to endoxifen

sec: 2d6 to 4hydroxytam, 3a to endoxifen

29
Q

how do poor vs extensive metabolizers by cyp2d6 differ wrt survival rates of breast cancer after being treated w tamoxifen

A

poor metabolizers: more likely to relapse bc less of the endoxifen is produced

em: less likely to relapse bc able to produce endox.

30
Q

what impact does mutated cyp2c9 have on s-warfarin

A

cant metabolise warfarin, anticoag keeps occuring, excessive bleeding.

31
Q

metabolism by cyp2c19 is an ______ pathway for omeprazole.

A

inactivation

32
Q

poor metabolizers by cyp2c19 have what outcome (wrt omeprazole)

A

can better reduce stomach acidity, bc less of the drug gets metabolised, so can act on gastric acidity for longer

33
Q

are poor metabolisers always bad?

A

no, just depends on whether you have a prodrug or inactivation

34
Q

what role does tmpt play for 6mp? why is this important?

A

it detoxifies 6mp. without it, it goes onto produce tgn

35
Q

what effect do thioguanine nucleotides have?

A

cytotoxic effect

36
Q

lower metabolic activity of TMPT has what affect on toxicity in the use of 6mp for leukemia treatment

A

increases toxicity bc 6mp cant get detoxified

37
Q

contrast toxicity of 6mp in a leukemia patient with m/m vs m/wt vs wt/wt

A

m/m, least tpmt, least detox, most tox
wt/wt, most tpmt, most detox, least tox

38
Q

variation at this amino acid in the ________- receptor affects response to isoproterenol

A

27, b2 adr recept

39
Q

variation at amino acid 16 in beta ad recep affects response to __________

A

salbutamol

40
Q

GLN at amino acid 27 on Badrecept leads to _____ blood vessel dilation

A

less

41
Q

salubutamol is used for. so we want _____ beta 2 receptors for _______

A

asthma, activated, bronchodilation

42
Q

homozygous arg at amino acid 16 in beta ad receps leads to

A

large bronchodil response

43
Q

homo or hetero gly at amino acid 16 in beta ad receps leads to

A

lower bronchodil response

44
Q

wild type mu-opiod recep needs (more/less) m6g at target site to have reduced pupil size

A

less

45
Q

trastuzumab (herceptin) only works when:

A

patient has the her2 growth factor

46
Q

how does pharmacogenetics help with deciding if herceptin is good or not

A

can see whether patient has her2 factor, and whether the treatment is worth it

47
Q

what is the purpose of personalized medicine

A

medicine tailored to patient, less trial and error

48
Q

t/f: prescribed drugs are effective in the majority of patients

A

false; 50% ineffective

49
Q

t/f: adverse drug reactions are uncommon

A

false, 4th leading cause of hosp, 100 000 deaths per year

50
Q

what is the cost of ADRs per year

A

30-150 billion

51
Q

what (other than cyp2c9) in involved with increased bleeding risk after administering warfarin

A

vkorc1, cyp4f2, factor v leiden, diet rich in vit k

52
Q

challenges of personalized medicine

A

polygenic inheirtence and causes of disease
technology - not yet at where it needs to be
clinical challenges

53
Q

why is polygenic inheritance a challenge for personalized medicine

A

many different genetic impacts in just one drug met route

54
Q

how do genetics impact metabolism of navoban in liver, brain, and at 5ht receptor

A

liver: PM leads to high drug levels
EM leeds to normal drug levels

brain: genetically less p glyco : more drug in brain
genetically more p glyco: less drug in brain

5ht: can have variations in SERT (uptake), TPH2 (ser synthesis), serotonin breaker downers

55
Q

technological challenges of personalized medicine

A

expensive, privacy issues

56
Q

when should pers. med. be used

A

serious disease, high predictive power, high cost of normal treatment, no alt meds, narrow ther index

57
Q

main ops vs challenges of pers med

A

improve drug del, improve clinical care, challenging for tech and management

58
Q

t/f: pers med is a good immediate solution for all

A

False

PCL201 (19 decks)

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