Disease and Drugs

Question 1

What causes Thalassemia

Answer 1

mutation in the promoter region of B globulin or deletion of the locus of control. of the beta globin gene.

Question 2

What is Hemophilia B Leyden and what causes it?

Answer 2

insufficient Factor IX gene. Mutations arise in the promoter region.

After puberty, the androgen receptor becomes active and binds to produce more Factor IX 60%

Question 3

Crainostynosis

Answer 3

MSX2 (homeodomain protein aka Helix-turn-helix)

-mutation causes “GAIN of function” and over production of the proteins important for suture closure in skull.

Question 4

Androgen Insensitivity Syndrome (AIS)

Answer 4

Mutations in the ligand or androgen receptor (a zinc finger DNA binding protein) leads to feminization.

Question 5

Rubinstein-Taybi Syndrome

Answer 5

Mutation in the CBP (CREB binding protein) gene. CBP is a HAT. Insufficiency of CBP results in decreased transcription in digits, retardation, and craniofacial dysmorphis,

Question 6

Leukemia

Answer 6

Can be caused by mutations in genes encoding for HATs and HDACs.

Question 7

Hemoglobin Wayne is caused by what kind of a mutation?

Answer 7

3’ terminal FRAMESHIFT (deletion)

Question 8

Hemoglobin Constant Spring is caused by what kind of mutation?

Answer 8

Sense mutation (UAA->CAA)

Question 9

Scurvy is characterized by a lack of which non-natural amino acid?

Answer 9

Hydroxyproline

also found in collagen fibers

Question 10

Which disorders/drugs are characterized by the non natural amino acid carboxyglutamate?

Answer 10

Vitamin K deficiency causes inhibition of carboxyglutatmate synthesis

Warfarin (Coumadin) inhibits carboxyglutamate synthesis

Carboxyglutamate is important for blood clotting proteins

Question 11

How does Tamoxifen work?

Answer 11

Tamoxifen binds to the estrogen receptor and blocks recruitment of HATs. This decreases transcription of breast cell proliferation genes.

Question 12

How does cyclosporin work?

Answer 12

Cyclosporin inhibits calcineurin.
Calcineurin dephosphorylates NF-AT which NORMALLY causes it to enter the nucleus and trigger immune response.
Cyclosporin thus prevents NF-AT from entering the nucleus and blocks immune responses

-used frequently in transplant patients. FK506 is another drug that acts the same.

Question 13

What are the drugs that deal with acetylation and methylation of amino acids?

Answer 13

HDAC inhibitors and Vorinostat (Zolina, Merck)

Question 14

What does Gleevec do and treat?

Answer 14

It is a tyrosine Kinase inhibitor.

Treats chronic myelogenous leukemia (CML)

Question 15

Which drug inhibits HIV protease?

Answer 15

crixivan

Question 16

Which drug inhibits ACE (angiotensin converting enzyme)?

Answer 16

captopril

Question 17

What drug targets cap binding proteins?

Answer 17

Rapamycin
Targets EIF4e
-inhibits be dephosphorylating

Question 18

Which drug inhibits reverse transcriptase in HIV

Answer 18

DDI (dideoxyinosine)

-mimics nucleotides but without 3’ OH