Disease and Drugs (DD) Flashcards
Gout
Accumulation of low-soluble purines
Lesch-Nyhan
Accumulation of low-soluble purines
Xeroderma pigmentosum
Defect in global nucleotide excision repair or TFIIH subunits, leading to abnormal skin pigmentation & photosensitivity
Cockayne syndrome
Defect in transcription-coupled nucleotide excision repair or TFIIH subunits, leading to dev problems & photosensitivity
Trichothiodystrophy
Defect in TFIIH subunits, leading to dev problems & photosensitivity
Lynch syndrome
Defect in mismatch repair, common in colorectal cancers
Thalassemia
Mutation in B-globin promoter, leading to anemia
Hemophilia B Leyden
Mutation in Factor IX promoter, leading to depressed clotting. Improves w/ puberty due to androgen receptor binding region overlap w/ promoter.
Fragile X-Syndrome
Excessive CpG islands leading to increased methylation/silencing of FMR1 developmental gene
Craniosynotosis
Mutation in homeodomain leading to excessive binding & consequent premature skull closure
Androgen insensitivity syndrome
Mutation in zinc-finger binding domain of androgen receptor, leading to depressed secondary male characteristics
Waardenburg syndrome type 2
Mutation in MITF (helix-loop-helix) resulting in deficient melanocytes, hearing & pigmentation
Rubinstein-Taybi Syndrome
Haploinsufficiency of CBP, which is an essential HAT, leading to developmental problems
Alzheimer’s
Excessive AB plaques & consequent neurofibrillary tangles, leading to neuronal degeneration. Can be inherited with missense mutation on APP, Presenilin 1 or Presenilin 2 genes.
Spinal muscular atrophy
Mutation in SMN1 gene, causing impaired SMN mRNA; Antisense oligonucleotide blocking splicing of exon 7 on SMN2 gene, causing it to express functional SMN
AZT
Inhibit reverse transcriptase DNA synthesis, lack 3’-OH
DDI
Inhibit reverse transcriptase DNA synthesis, lack 3’-OH
Cisplatin
DNA alkylating chemotherapy agent
Actinomycin D
DNA intercalating drug
Doxorubicin (adriamycin)
DNA intercalating chemotherapy agent, disrupts topoisomerase, very effective
Etoposide
Disrupts topoisomerase so DNA remains broken
Camptothecin
Disrupts topoisomerase so DNA remains broken
Puromycin
Mimics tRNA structure, halts translation
Tamoxifen
Mimics estrogen but when bound to receptor, halts recruitment of HATs
Interferon (NOT DRUG, BUT PROTEIN?)
Phosphorylate eIF2, which shuts down translation
Alpha-amanitin
Non-competitive inhibitor of RNA pol II, binds to bridge helix & halts translocation
Rifampicin
Antibiotic, blocks RNA exit channel
Gleevec
Inhibits tyrosine kinase and tumor cell proliferation; used to treat chronic myelogenous leukemia
Bortezomib
Proteosome inhibitor; used to treat multiple myeloma
Cyclosporin
Inhibits cyclophilin (PPI) & calceneurin, leading to immunosuppressant
Rapamycin
Inhibits mTOR, which consequently allows dephosphorylation of eIF4e-BP. eIF4e-BP binds to eIF4e and prevents it from binding to 5’cap & translate.
Ritonavir
A competitive inhibitor that targets HIV proteases.
Penicilin
An irreversible inhibitor that inhibits bacterial cell wall growth.
Streptomycin
Inhibit prokaryote initation & translation
Erythromycin
Inhibit prokaryote peptidyl transferase
Tetracycline
Inhibit prokaryote aminoacyl tRNA binding
Chloramphenicol
Inhibit prokaryote peptidyl transferase
Vasopressin (Anti-diuretic HORMONE)
Anti-diuretic peptide hormone; used to treat diabetes insipidus
Quinolone
Inhibits gyrase
