Disease and Drugs (DD) Flashcards Preview

Unit I M2M > Disease and Drugs (DD) > Flashcards

Flashcards in Disease and Drugs (DD) Deck (39)
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1
Q

Gout

A

Accumulation of low-soluble purines

2
Q

Lesch-Nyhan

A

Accumulation of low-soluble purines

3
Q

Xeroderma pigmentosum

A

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

4
Q

Cockayne syndrome

A

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

5
Q

Trichothiodystrophy

A

Defect in TFIIH subunits, leading to dev problems & photosensitivity

6
Q

Lynch syndrome

A

Defect in mismatch repair, common in colorectal cancers

7
Q

Thalassemia

A

Mutation in B-globin promoter, leading to anemia

8
Q

Hemophilia B Leyden

A

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

9
Q

Fragile X-Syndrome

A

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

10
Q

Craniosynotosis

A

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

11
Q

Androgen insensitivity syndrome

A

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

12
Q

Waardenburg syndrome type 2

A

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

13
Q

Rubinstein-Taybi Syndrome

A

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

14
Q

Alzheimer’s

A

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

15
Q

Spinal muscular atrophy

A

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

16
Q

AZT

A

Inhibit reverse transcriptase DNA synthesis, lack 3’-OH

17
Q

DDI

A

Inhibit reverse transcriptase DNA synthesis, lack 3’-OH

18
Q

Cisplatin

A

DNA alkylating chemotherapy agent

19
Q

Actinomycin D

A

DNA intercalating drug

20
Q

Doxorubicin (adriamycin)

A

DNA intercalating chemotherapy agent, disrupts topoisomerase, very effective

21
Q

Etoposide

A

Disrupts topoisomerase so DNA remains broken

22
Q

Camptothecin

A

Disrupts topoisomerase so DNA remains broken

23
Q

Puromycin

A

Mimics tRNA structure, halts translation

24
Q

Tamoxifen

A

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

25
Q

Interferon (NOT DRUG, BUT PROTEIN?)

A

Phosphorylate eIF2, which shuts down translation

26
Q

Alpha-amanitin

A

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

27
Q

Rifampicin

A

Antibiotic, blocks RNA exit channel

28
Q

Gleevec

A

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

29
Q

Bortezomib

A

Proteosome inhibitor; used to treat multiple myeloma

30
Q

Cyclosporin

A

Inhibits cyclophilin (PPI) & calceneurin, leading to immunosuppressant

31
Q

Rapamycin

A

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

32
Q

Ritonavir

A

A competitive inhibitor that targets HIV proteases.

33
Q

Penicilin

A

An irreversible inhibitor that inhibits bacterial cell wall growth.

34
Q

Streptomycin

A

Inhibit prokaryote initation & translation

35
Q

Erythromycin

A

Inhibit prokaryote peptidyl transferase

36
Q

Tetracycline

A

Inhibit prokaryote aminoacyl tRNA binding

37
Q

Chloramphenicol

A

Inhibit prokaryote peptidyl transferase

38
Q

Vasopressin (Anti-diuretic HORMONE)

A

Anti-diuretic peptide hormone; used to treat diabetes insipidus

39
Q

Quinolone

A

Inhibits gyrase