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Drew 912 > Block 4 -- Pharmacogenetics & Pharmacogenomics > Flashcards

Block 4 -- Pharmacogenetics & Pharmacogenomics Flashcards

1
Q

Define ideal drug.

A

One that is safe and effective

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2
Q

What percentage of DNA encodes all diversity?

A

0.1%

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3
Q

What are uses of genetics/genomics?

A

1) observations = new drugs (bench-bedside-bench)
2) diagnosis & prognosis
3) Choice of drug, dose, prediction of ADRs
4) monitoring of drug resistance
5) profiling infection & cancer
6) gene & stem cell therapy

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4
Q

What does SNP stand for?

A

single nucleotide polymorphism

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5
Q

Define polymorphism.

A

Mutation occurring at a frequency of >1% in a specific population

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6
Q

What is a synonymous polymorphism?

A

a point mutation encoding for the same amino acid

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7
Q

What is a nonsynonymous polymorphism?

A

a point mutation encoding for a different amino acid

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8
Q

What are types of SNPs?

A

synonymous/nonsynonymous

insertion/delete

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9
Q

What is the most common mechanism of gene variation?

A

SNP

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10
Q

How are SNPs related to disease/altered response

A

only some SNPs are associated with disease/altered response

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11
Q

Define polygenic.

A

Owing to the functions of many genes

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12
Q

What diseases can benefit from pharmacogenetics?

A

1) many cancers: breast, prostate, AML
2) autoimmune diseases
3) Type II Diabetes

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13
Q

What therapies can benefit from pharmacogenetics?

A

1) ACE inhibitor response
2) beta-agonist response
3) anti-cholinergic response

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14
Q

What does the TYMS gene encode?

A

Thymidylate synthetase

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15
Q

Describe the TYMS polymorphism.

A
    • 28 bp tandem repeat
    • Varies from 2 to 9 copies
    • TS expression (3>2) = tumor resistance
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16
Q

How is resistance to 5-FU therapy assayed?

A

PharmacogenETICS

– TYMS gene (*3 > *2)

17
Q

How does 5-FU work as an anti-neoplastic agent?

A
    • 5-FU anabolism in target tissue –> 5F-dUMP

- - 5F-dUMP inhibits thymidylate synthetase

18
Q

How many CYP450 isoforms are there?

A

57

19
Q

What is the most studied CYP450 isoform?

A

CYP2D6

20
Q

What are substrates for CYP450?

A

1) TCAs
2) Codeine
3) DM
4) Tamoxifen

21
Q

What implications occur with no CYP2D6?

A

1) high risk for ADRs

2) No response from prodrugs

22
Q

What are implications for CYP2D6 ultrametabolizers?

A

No drug response at ordinary dosage

23
Q

Describe the metabolism of tamoxifen.

A

CYP2D6, CYP3A4, UGT2B7, UGT1A4
– UGT = glucuronidase
Active form: endoxifen/4-OH-Tam

24
Q

How is pharmacogenetics related to aminoglycoside

A

Determines presence of 12S rRNA mutation that mimics ancestral form of ribosome

    • Aminoglycoside attacks to cause ototoxicity
    • this is a polymorphism!
25
Q

Describe pharmacogenetics relating to genes & drug response?

A

Drug response is polygenic

26
Q

What influences response to therapy? How do pharmacogenetics & pharmacogenomics relate?

A

influences: (1) genetic factors and (2) environmental factors
- - ‘genetics: monitors gene effects with regard to ADME
- - ‘genomics: accounts for gene effects and environmental effects

27
Q

What is the goal of pharmacogenomics?

A

The prediction of treatment outcomes in the unknown patient

28
Q

What is the result of pharmacogenomics?

A

phenotype to measure response or toxicity

29
Q

Describe pharmacogenomics.

A

Determining the gene expression (mRNA) in a particular cell/tissue

30
Q

Describe pharmacogenetics.

A

Determines mutation status overall, concentrating on variation of a few genes. Mutation status may correlate with disease or response.

31
Q

What is G1?

A

normal growth

32
Q

What is S?

A

Interphase–DNA replication

33
Q

What is G2?

A

Preparation for mitosis–growth growth growth

34
Q

What is M

A

mitosis phase

Drew 912 (4 decks)

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