Disease and Drugs (DD)

Question 1

Gout

Answer 1

Accumulation of low-soluble purines

Question 2

Lesch-Nyhan

Answer 2

Accumulation of low-soluble purines

Question 3

Xeroderma pigmentosum

Answer 3

Defect in global nucleotide excision repair or TFIIH subunits, leading to abnormal skin pigmentation & photosensitivity

Question 4

Cockayne syndrome

Answer 4

Defect in transcription-coupled nucleotide excision repair or TFIIH subunits, leading to dev problems & photosensitivity

Question 5

Trichothiodystrophy

Answer 5

Defect in TFIIH subunits, leading to dev problems & photosensitivity

Question 6

Lynch syndrome

Answer 6

Defect in mismatch repair, common in colorectal cancers

Question 7

Thalassemia

Answer 7

Mutation in B-globin promoter, leading to anemia

Question 8

Hemophilia B Leyden

Answer 8

Mutation in Factor IX promoter, leading to depressed clotting. Improves w/ puberty due to androgen receptor binding region overlap w/ promoter.

Question 9

Fragile X-Syndrome

Answer 9

Excessive CpG islands leading to increased methylation/silencing of FMR1 developmental gene

Question 10

Craniosynotosis

Answer 10

Mutation in homeodomain leading to excessive binding & consequent premature skull closure

Question 11

Androgen insensitivity syndrome

Answer 11

Mutation in zinc-finger binding domain of androgen receptor, leading to depressed secondary male characteristics

Question 12

Waardenburg syndrome type 2

Answer 12

Mutation in MITF (helix-loop-helix) resulting in deficient melanocytes, hearing & pigmentation

Question 13

Rubinstein-Taybi Syndrome

Answer 13

Haploinsufficiency of CBP, which is an essential HAT, leading to developmental problems

Question 14

Alzheimer’s

Answer 14

Excessive AB plaques & consequent neurofibrillary tangles, leading to neuronal degeneration. Can be inherited with missense mutation on APP, Presenilin 1 or Presenilin 2 genes.

Question 15

Spinal muscular atrophy

Answer 15

Mutation in SMN1 gene, causing impaired SMN mRNA; Antisense oligonucleotide blocking splicing of exon 7 on SMN2 gene, causing it to express functional SMN

Question 16

AZT

Answer 16

Inhibit reverse transcriptase DNA synthesis, lack 3’-OH

Question 17

DDI

Answer 17

Inhibit reverse transcriptase DNA synthesis, lack 3’-OH

Question 18

Cisplatin

Answer 18

DNA alkylating chemotherapy agent

Question 19

Actinomycin D

Answer 19

DNA intercalating drug

Question 20

Doxorubicin (adriamycin)

Answer 20

DNA intercalating chemotherapy agent, disrupts topoisomerase, very effective

Question 21

Etoposide

Answer 21

Disrupts topoisomerase so DNA remains broken

Question 22

Camptothecin

Answer 22

Disrupts topoisomerase so DNA remains broken

Question 23

Puromycin

Answer 23

Mimics tRNA structure, halts translation

Question 24

Tamoxifen

Answer 24

Mimics estrogen but when bound to receptor, halts recruitment of HATs

Question 25

Interferon (NOT DRUG, BUT PROTEIN?)

Answer 25

Phosphorylate eIF2, which shuts down translation

Question 26

Alpha-amanitin

Answer 26

Non-competitive inhibitor of RNA pol II, binds to bridge helix & halts translocation

Question 27

Rifampicin

Answer 27

Antibiotic, blocks RNA exit channel

Question 28

Gleevec

Answer 28

Inhibits tyrosine kinase and tumor cell proliferation; used to treat chronic myelogenous leukemia

Question 29

Bortezomib

Answer 29

Proteosome inhibitor; used to treat multiple myeloma

Question 30

Cyclosporin

Answer 30

Inhibits cyclophilin (PPI) & calceneurin, leading to immunosuppressant

Question 31

Rapamycin

Answer 31

Inhibits mTOR, which consequently allows dephosphorylation of eIF4e-BP. eIF4e-BP binds to eIF4e and prevents it from binding to 5'cap & translate.

Question 32

Ritonavir

Answer 32

A competitive inhibitor that targets HIV proteases.

Question 33

Penicilin

Answer 33

An irreversible inhibitor that inhibits bacterial cell wall growth.

Question 34

Streptomycin

Answer 34

Inhibit prokaryote initation & translation

Question 35

Erythromycin

Answer 35

Inhibit prokaryote peptidyl transferase

Question 36

Tetracycline

Answer 36

Inhibit prokaryote aminoacyl tRNA binding

Question 37

Chloramphenicol

Answer 37

Inhibit prokaryote peptidyl transferase

Question 38

Vasopressin (Anti-diuretic HORMONE)

Answer 38

Anti-diuretic peptide hormone; used to treat diabetes insipidus

Question 39

Quinolone

Answer 39

Inhibits gyrase