Exam II Memorize

Question 1

UGT1A1 is required for?

a. bile elimination
b. ammonia elimination
c. transcellular transport
d. Transporting drug into the hepatocyte

Answer 1

a

Question 2

valve disease:

Answer 2

valve cannot fully close

Question 3

aneurysm:

Answer 3

bulged blood vessel

Question 4

cardiomyopathy:

Answer 4

thickening of myocardium, harder to pump blood

Question 5

pulmonary stenosis:

Answer 5

pulmonary valve is too small, narrow, or stiff

Question 6

statin enters enterocyte via which transporters?

a. SLCO2B1 & SLC15A1
b. UGT1A1 & UGT1A3
c. ABC1 & ABCG2
d. OATP1B1 & OATP1B2

Answer 6

a

Question 7

once transported into enterocyte, statin is metabolized by which two enzymes into active and inactive metabolites?

a. CYP2C3/5
b. CYP3B4/5
c. CYP3A4/5
d. CYP1A2/3

Answer 7

c

Question 8

both statin and its metabolites enter hepatocyte via which transporter?

a. UGT1A1
b. SLC15A1
c. SLCO2B1
d. UGT1A3

Answer 8

c

Question 9

Statin in liver is metabolized by?

Answer 9

various CYP enzymes

Question 10

statin metabolites are further metabolized by?

Answer 10

UGT1A1/3 or UGT2B7

Question 11

statin is transported out of liver or transported to renal cell and eliminated by which transporters?

a. ABC1 & ABCG2
b. UGT1A1 & UGT1A3
c. SLCO2B1 & SLC15A1
d. OATP1B1 & OATP1B2

Answer 11

a

Question 12

where can genetic variation occur during PK factors of statin?

Answer 12

elimination transporters or transportation transporters such as SLCO2B1

Question 13

which transporter is responsible for stain uptake and transport out of liver?

Answer 13

OATP1B1

Question 14

what does the *5 SNP in the SLCO1B1 gene do?

what does it increase the risk of?

Answer 14

produces a less efficient OATP1B1 protein and is less able to xport statins to liver
inc risk of CVD instead of reducing risk of CVD

Question 15

which enzymes metabolize the prodrug clopidogrel into its first metabolite?

Answer 15

cyp2C19, 3A4, and A12

Question 16

which enzyme is required for clopidogrel activation?

Answer 16

paraoxonase-1 (PON1)

Question 17

how does clopidogrel work as an antiplatelet?

Answer 17

prevent ADP binding to P2Y12 platelet receptor

Question 18

in the colon, what happens if APC is mutated?

Answer 18

causes colon cells to hyperproliferate

Question 19

what gene is activated in response to hyperproliferation of the colon cells?

Answer 19

ras

Question 20

what does ras do during proliferating colon cells?

Answer 20

localizes cells into one area to generate adenoma

Question 21

what is the p53 gene and what happens to the colon if its mutated?

Answer 21

tumor suppressor gene

adenoma becomes carcinoma

Question 22

once a carcinoma develops in the colon, and there’s a mutation in the DCC gene, what happens?
what is the DCC gene?

Answer 22

cancer becomes invasive and spreads

DCC is a tumor suppressor gene

Question 23

what genetic condition causes APC mutation in colon?

a. Hereditary Non-Polyposis (HNP)
b. Categorical Autonomic Polyposis (CAP)
c. Familial Adenomatous Polyposis (FAP)

Answer 23

c

Question 24

which two drugs treat colon cancer?

Answer 24

5FU and irinotecan

Question 25

what does 5FU bind to causing inhibition of the enzyme resulting in inhibition of DNA synthesis

Answer 25

thymidylate synthase (TS)

Question 26

most of 5FU is eliminated by which enzyme?

Answer 26

dihydropyrimidine dehydrogenase

Question 27

if FU is converted to FUMP, what is the result?

Answer 27

RNA damage

Question 28

if FU is converted to a diff metabolite, what is the result?

Answer 28

DNA damage

Question 29

MIR27A inhibits coding gene DPYD which produces DPD.

Answer 29

.

Question 30

what happens in the mutation of DPD? | what is the result?

Answer 30

a guanine is changed to adenosine at exon 14 causing a deletion of the entire exon, leaving only exon 13&15 DPD cannot effectively metabolize 5-FU leading to toxicity

Question 31

what happens in the mutation of thymidylate synthesis? (normal vs mutated TS)

Answer 31

normal TS has 2 tandem repeats, when FU acts on TS it decreases TS activity and causes good antitumour response mutated TS has 3 tandem repeats which will increase TS activity causing poor antitumour response

Question 32

which metabolite of irinotecan causes antitumour activity?

Answer 32

SN-38

Question 33

which two enzymes convert irinotecan to SN-38?

Answer 33

CES1 and CES2

Question 34

mutations in ABC xporters modifies toxicity of drug

Answer 34

.

Question 35

metabolism of irinotecan is dependent on CES1 & CES2 mutations

Answer 35

.

Question 36

UGTs convert SN-38 to?

Answer 36

SN-38G

Question 37

UGT1A1 polymorphims can predict toxicity in cancer pts

Answer 37

.

Question 38

how do UGT1A1 polymorphims affect irinotecan therapy?

Answer 38

mutation which dec. expression of UGT which slows down glucuronidation causing toxicity symptoms

Question 39

mercaptopurine is a treatment for acute lymphoblastic leukemia. it is converted into its active metabolite thioguanine nucleotides via which enzyme?

Answer 39

hypoxanthine phosphoribosyl transferase (HPRT)

Question 40

meracptopurine is also converted into its inactive metabolite via which enzyme?

Answer 40

thiopurine S-methyl-transferase (TPMT)

Question 41

chronic myelogenous leukemia: which gene causes it? what protein does this gene produce? what does the protein do?

Answer 41

BCR-ABL, bcr-abl protein, the protein increases leukemic cells

Question 42

what treatment inhibits bcr-abl protein?

Answer 42

imanitib

Question 43

what enzyme does imanitib inhibit? how does it inhibit bcr-abl protein?

Answer 43

tyrosine kinase inhibitor | bins to bcr-abl site where ATP would bind inhibitng proliferation

Question 44

what does herceptin do?

Answer 44

stops HER2 receptors from signaling cancer cells to grow

Question 45

which two proteins are overproduced in alzeimers?

Answer 45

amyloid and tau

Question 46

APOE3 & APOE4 allow neurons to grow and inhibit inflammation of glial cells

Answer 46

.

Question 47

mutations in APOE3/4 inhibit neuron growth

Answer 47

.

Question 48

causes of parkinsons occur due to polymorphisms of?

Answer 48

DRD2, COMT, & SLC6A3

Question 49

what is phenytoin? how does it work? what encodes it?

Answer 49

treatment for parkinsons. inhibits neuronal sodium channels | SCN genes

Question 50

G6PD, RBCs only way to protect from infection. deficiencies cause? it also effects the way certain drugs work, such as-

Answer 50

hemolytic anemia | antibacterial, antipyretics, antimalaria

Question 51

treatment drug for tuberculosis?

Answer 51

isoniazid (INH)

Question 52

isoniazid is metabolize by?

Answer 52

NATs

Question 53

what is the goal of non viral gene therapy?

Answer 53

insert DNA into target cells

Question 54

severe combined immunodeficiency disease (SCID) is caused by a deficiency in?

Answer 54

adenosine deaminase

Question 55

how is SCID treated?

Answer 55

implant normal ADA gene into retrovirus and infect T cells

Question 56

what is ornithine transcarbamylase deficiency (OTC)? what happens? what is the treatment? how does it work?

Answer 56

urea cycle disorder liver unable to remove ammonia sodium benzoate=> binds to ammonia and increases elimination

Question 57

what causes cystic fibrosis?

Answer 57

mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene

Question 58

what gene therapy treatment is used for CF?

Answer 58

adenovirus

Question 59

what does the CFTR gene do?

Answer 59

regulates fluid excretion

Question 60

what is p53?

Answer 60

DNA repair enzyme

Question 61

what happens if the ras gene is mutated?

Answer 61

cannot regulate cell division, causes non-stop mitosis