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biochem exam 6 > Pharmacogenetics > Flashcards

Pharmacogenetics Flashcards

(97 cards)

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1
Q

three things that make us

A

genetics
environment
epigenetics

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2
Q

describes the DNA sequence variation leading to alterations in drug response

A

pharmacogenomics

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3
Q

describes the relationship of protein structure and function

A

proteomics

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4
Q

study of the set of metabolites present within an organism, cell or tissue

A

metabolomics

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5
Q

describes the changes in gene function or expression that occur in the absence of DNA sequence alterations

A

epigenetics

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6
Q

types of drug responses

A
  • full
  • partial
  • none
  • adverse reaction
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7
Q

drug response and doses

A

each specific drug with specific dose is different

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8
Q

why is personalized medicine important?

A

some of our differences translate into how we react to drugs as individuals

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9
Q

goal of personalized medicine

A
  • right dose
  • right drug
  • right indication
  • right patient
  • right time
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10
Q

study of individual gene drug interactions, usually one or two genes that have dominant effect on drug response

A

pharmacogenetics

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11
Q

is pharmacogenetics a simple or complex relationship?

A

simple

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12
Q

is pharmacogenomics a simple or complex relationship?

A

complex

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13
Q

study of genomic influence on drug response, high throughput data

A

pharmacogenomics

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14
Q

What percentage of medication do not work as intended?

A

10-70%

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15
Q

What group of medications have the higher percentage of not working?

A

B-2 agonists

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16
Q

how much money is spent on medication adverse reactions each year?

A

2 million

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17
Q

large single variant event

A

pharmacogenetics

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18
Q

small effect, multiple variants

A

pharmacogenomics

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19
Q

compare genetic polymorphisms in phenotypic groups

A

pre-genomics

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20
Q

compare phenotypes in genotypic groups

A

post-genomics

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21
Q

what does pharmacogenetics involve?

A

ADME

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22
Q

how many genes are associated with pharmacogenetics?

A

1200

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23
Q

how many ADME markers are there in pharmacogenetics?

A

4800

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24
Q

How many markers are clinically actionable?

A

100

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25
What percentage of medications are metabolized to CYP450?
75%
26
which is the most important? A. CYP3A4 B. CYP2D6 C. CYP2C9 and 2C19
A. CYP3A4 (50%)
27
Which of the following is not inducible? A. CYP3A4 B. CYP2D6 C. CYP2C9 and 2C19
B. CYP2D6
28
which of the following is inducible? A. CYP3A4 B. CYP2D6 C. CYP2C9 and 2C19
A and C
29
Which of the following is least important? A. CYP3A4 B. CYP2D6 C. CYP2C9 and 2C19
C
30
CYPD6 + wildtype (*1XN) A. ultrarapid B. extensive C. intermediate D. poor
A. ultrarapid
31
CYP2D6 + wildtype (*1) A. ultrarapid B. extensive C. intermediate D. poor
B. extensive
32
CYP2D6 + wild/mutant (*1/*17) A. ultrarapid B. extensive C. intermediate D. poor
C. intermediate
33
CYP2D6 + mutant (*17) A. ultrarapid B. extensive C. intermediate D. poor
D. poor
34
t/f SNP are 1 bp
true
35
If someone has inactive metabolite and ultra rapid, would you need a higher or lower dose?
higher dose because excreted faster
36
Ultrarapid
excrete superfast
37
if someone has an active metabolite and ultra rapid, would you need a higher or lower dose?
lower dose because give high dose or active drug
38
What genes modulate ADME?
TPMP CYP2D6 UGT1A1
39
What is TPMT a main metabolize of?
chemotherapeutic agents 6MP and azothiopurine
40
TPMT deficiency
leads to severe toxicity associated with treatment (potential mortality)
41
Dose TPMT convert 6MP into an active or inactive metabolite?
active
42
wildtype and TPMT
convert normally to active
43
mutant and TPMT
won't convert to active metabolite
44
If you had a mutant and TPMT would you want a higher or lower dose?
lower dose because the toxicity would be high because still active
45
How many alleles are of CYP2D6 described in this gene?
>70
46
types of CYP2D6 alleles
- extensive metabolizers - intermediate metabolizes - poor metabolizers
47
Are extensive metabolizers wild type or mutant?
wild type
48
are intermediate metabolizers wild type or mutant?
both
49
are poor metabolizers wild type or mutant?
mutant
50
what is the standard metabolism allele against which others are compared?
EM CYP2D6
51
how many copies of CYP2D6 in some individuals?
up to 16
52
EM/EM
normal metabolizers
53
IM/IM
intermediate metabolizers
54
IM/PM
intermediate metabolizers
55
PM/PM
poor metabolizers
56
what does CYP2D6 convert codeine tot?
morphine
57
Is codeine inactive or active?
inactive prodrug
58
is morphine inactive or active?
active metabolite
59
CYP2D6 and newborns
codeine can be fatal | Give mom low dose because it rapidly converts to active metabolite
60
what does CYP2D6 convert tamoxifen to?
endoxifen
61
is endoxifen active or inactive?
active
62
is tamoxifen active or inactive?
inactive
63
Do PM have much lower levels of endoxifen than RM?
PM
64
what percentage of european population is deficient in CYP2D6?
6-10%
65
Tamoxifen and CYP2D6 deficiency
efficacy likely low
66
What enzymes does warfarin depend on?
CYP2C9 | VKORC1
67
Warfarin and CYP2C9
7 OH warfarin (active)
68
Warfarin and VKORC1
vitamin K reduced
69
What enzyme is inhibited so that warfarin can work?
VKORC1
70
mutant in warfarin that is very sensitive if you give same dose
VKORC1
71
heterozygous or homozygous for CYP2C9 and VKORC1
more sensitive to standard doses of warfarin
72
What drug ranks as the #1 total mentions of deaths for drugs causing adverse events?
warfarin
73
what drug ranks among the top drugs associated with hospital ER visits for bleeding?
warfarin
74
in warfarin what is the overall frequency of major bleeding range from?
2-16%
75
If mutant for warfarin do you want to keep dose or adjust?
adjust
76
if mutant for clopidogrel do you want to keep dose or adjust?
adjust, higher
77
clopidogrel and CYP2C19
makes into active metabolite
78
what drug should be genotyped fro the HLA?
abacavir
79
What do you pre-screen in Abacavir?
HLA-B*5701 (fatal hypersensitivity)
80
Is there a high amount of patients with hypersensitivity to abacavir?
yes
81
change in chromosome without alterations in DNA sequence
epigenetics
82
What are genes turned on or off by in epigenetic?
- DNA methylation - Histone modifications - Non coding RNA (miRNA)
83
t/f epigenetic changes cannot be heritable
false
84
study of complete set of epigenetic alterations
epigenomics
85
epigenetic features that maintain different phenotypes in different cells
epigenetic code
86
t/f there are different phenotypes in different cells for epigenetics
true
87
what maintains inactive condensed chromatin state?
cytosine methylation | histone deaceytalaztion
88
What is a big factor in cancer?
hyper methylated
89
catalyzes transfer of methyl group from SAM to SmC
methylation of cytosine
90
where does methylation of cytosine occur?
CpG
91
DNA methylation of the promotor region interferes with binding of transcription factors
suppress gene expression
92
what is essential for gene control, determining both active and repressed states?
chromosomal infrastructure
93
what have a key role in epigenetic?
histones | chromatin
94
how many genes turned off could convert to cancer cell?
3
95
what is a new approach to cancer therapy?
epigenetic silencing
96
medications that target epigenetics
HDAC | DNMT
97
t/f epigenetic changes cannot occur as a result of dietary and other environmental exposure
false

biochem exam 6 (3 decks)

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