Study Guide Chapter 5: Pharmacogenomics

Question 1

What are SNPs?

Answer 1

Single nucleotide polymorphisms that can result in a variant.

Question 2

Define pharmacogenomics and its importance.

Answer 2

Enables personalized medicine. And studies how genes affect a person’s response to drugs (you find out your metabolisms and mutations)

Question 3

What is personalized pharmacology?

Answer 3

predict and explain abnormal reactions, based on specific genetic testing.

Question 4

What is a poor metabolizer?

Answer 4

someone whose genes leads to reduced enzyme activity, affecting drug metabolism.

Question 5

Provide an example of a poor metabolizer drug.

Answer 5

Codeine, which is metabolized by CYP2D6 to morphine. if you have less CYPP2D6 then it you will have less of the codeine converted to morphine, and possilbe OD on codeine

Question 6

What is an ultra-rapid metabolizer?

Answer 6

An individual with a genetic variant that leads to increased enzyme activity, resulting in rapid drug metabolism.

Question 7

Name three drugs that may require dosage adjustments in specific genetic populations.

Answer 7

Purine Analogs, Warfarin, and Herceptin.

Question 8

What enzyme is responsible for the metabolism of 6-mercaptopurine?

Answer 8

TPMT (thiopurine S-methyltransferase).

Question 9

What is the primary function of drug transporters?

Answer 9

Transport substances needed by the cell, such as hormones and nutrients.

Question 10

What are efflux transporters?

Answer 10

Transporters that pump drugs out of the cell, often contributing to drug resistance.

Question 11

What are ABC transporters?

Answer 11

ATP-Binding Cassette transporters that function as major drug efflux transporters. (Using ACTIVE TRANSPORT)

Question 12

List the most important ABC transporters.

Answer 12

• ABCB1
• ABCC
• ABCG2

Question 13

Give ABCB1s drug affinity

Answer 13

Quinidine inhibits ABCB1. A patient who is on digoxin, or loperamide can recieve a toxic dose d/t inhibition of ABCB1. (dig conc would increase too high, loperamide can have CNS effects at high doses)

Question 14

ABCC drug affinity

Answer 14

antineoplastic efflux (anticancer drug)

Question 15

ABCG2 drug affinity

Answer 15

antineoplastics, toxins, food-borne carcinogens, folate

Question 16

What is the role of the blood-brain barrier?

Answer 16

To protect the brain by restricting the passage of substances.

Question 17

What components make up the blood-brain barrier?

Answer 17

• Vascular epithelium
• Tight junctions
• Astrocytes
• Pericytes

Question 18

List the two types of barriers the BBB has

Answer 18

*Physical-vascular epithelium, tight junctions, astrocyte, pericyte
*Molecular-active efflux transporters, intracellular lipophilic pathway, carrier protein-mediated pathway, receptor-mediated endocytosis

Question 19

What types of substances can typically cross the blood-brain barrier?

Answer 19

Small, lipophilic substances or those with specific transporters.

Question 20

Describe the pathway of Tylenol in the gut.

Answer 20

Tylenol is absorbed in the intestine, transported to the hepatic portal system, and metabolized in the liver.

Question 21

What happens to Tylenol after biotransformation?

Answer 21

It is converted to a non-toxic glucuronide and excreted via bile and feces.

Question 22

What drives tumor growth in breast cancer?

Answer 22

Receptors on the surface of cancer cells, such as ER+ (estrogen receptors), PRs+ (Progesterone receptors), and HER2+.

Question 23

What is the function of transporters in the placenta?

Answer 23

They pump nutrients into the fetal circulation while protecting against xenobiotics.