Pharmacogenomics

Question 0

What is pharmacogenetics?

Answer 0

Study of genes and their alleles in relationship to drug response in a given patient

Question 1

What is pharmacogenomics?

Answer 1

Study of genes related to drug metabolism and the use of this knowledge to develop new, targeted drugs

Question 2

Major system to metabolize drugs?

Answer 2

Cytochrome P450….CYP

Question 3

What percentage of ADRs are related to genetic anomalies?

Answer 3

About 50%

Question 4

Major benefits of pharmacogenomics?

Answer 4

Each patient gets exactly the right medication for his or her situation

Question 5

What are ADME core markers?

Answer 5

Known genes involved in drug metabolism

Question 6

Functional alleles for poor metabolizers?

Answer 6

None….so there is an accumulation of drug that may be toxic

Need a lower dose of the medication

Question 7

Number of functional alleles for an extensive metaboizer?

Answer 7

2…this is a “normal” individual.

Question 8

Number of functional alleles for an ultra metabolizer?

Answer 8

More than 2. Might need higher doses of the drug

Question 9

Number of functional alleles for an intermediate metabolizer?

Answer 9

1 functional allele

Need a lower than normal dose.

Question 10

What is TMPT?

Answer 10

Thiopurine methyl transferase

It catalyze a the methylation of 6-MP and 6-T

Question 11

What occurs in individuals with 2 mutations in TPMT? What happens in heterozygotes?

Answer 11

2 mutated alleles= bone marrow toxicity because accumulation of 6-MP

heterozygotes= mild toxicity, require a lower dose

Question 12

Function of G6PD?

Answer 12

Relieves oxidative stress in cells by regenerating reduced glutathione and prevents induction of hemolysis

Question 13

Who is G6 PD deficiency usually seen in?

Answer 13

African American males and people from the Mediterranean area

Question 14

malignant hypothermia is due to mutations in….

Answer 14

RYR1 and CACNL1A3 and 4 other loci

Question 15

T/F: malignant hypothermia is a recessive trait.

Answer 15

False…autosomal dominant

Question 16

Functions/ mechanisms of warfarin?

Answer 16

Inhibits the enzyme epoxied reducatse (which inhibits vit k metabolism).

Inhibits vit k reducatse to prevent reduction of vit k

Question 18

2 genes involved in warfarin metabolism:

Answer 18

VKORC1 and CYP2C9

Question 19

Who requires a larger dose of warfain with a VKORC1 mutation? Who requires a smaller one?

Answer 19

Asian= low dose

African Americans= high dose

Question 20

Who is a CYP2C9 mutation common in?

Answer 20

Caucasians

Question 21

What reactions with warfarin to increase or decrease risk of bleeding?

Answer 21

Medications increase the risk of bleeding (aspirin, ibuprofen, acetaminophen)

Foods high in vit K decrease the function of warfarin