Diseases / Drugs Flashcards
Gout
Acute inflammatory monoarthritis.
Classic manifestation is painful MTP joint of big toe.
Buildup of purine residues, due to underexcretion of uric acid.
Lynch Syndrome
CRC; proximal colon is always involved.
Autosomal dominate mutation of DNA mismatch repair genes.
Xeroderma Pigmentosum
Light sensitivity, abnormal pigmentation, cancer susceptibility.
Defective NER which prevents repair of pyrimidine dimers because of UV light exposure.
Marfan Syndrome
Connective tissue disorder affecting skeleton, heart, and eyes.
Autosomal dominate mutation of Fibrillin-1 gene that affects splicing.
beta-Thalassemia
Mild anemia.
Decreased beta- globin synthesis due to point mutations in splice sites and promoter sequences.
gamma delta beta-Thalassemia
More serious anemia.
Loss of globin transcription due to a deletion in the locus control region for transcription of all globin genes.
Hemophilia B Leyden
Blood clotting disorder.
X linked disease linked to mutation in promoter that leads to decreased factor 9 production.
Fragile X Syndrome
Intellectual disability (2nd most common cause), post pubertal macroorchidism.
X-linked defect (trinucleotide repeat disorder, CGG) affecting methylation and expression of FMR1 gene.
Craniosynostosis
Premature closure of skull sutures in infants.
Mutation in homeodomain protein that increase affinity and activates genes more strongly than normal.
Waardenburg Syndrome
Deafness, pigmentation defects.
Mutation in MITF (encodes bHLH) that affects genes important for pigmentation and hearing.
Androgen Insensitivity Syndrome
Feminization or undermasculinization.
Mutation in androgen receptor (zinc finger) binding domain or ligand binding domain which down regulates transcription of genes controlled by male androgens.
Rubinstein-Taybi Syndrome
Growth and mental retardation. Broad thumbs and toes.
Mutation in CREB binding protein, a widespread HAT important in development.
Virus modification of cap-dependent translation.
Virus prevents eIF-4E and eIF-4G from forming initiator complex. IRES are used to predominately translate viral mRNA.
Scurvy
Weak connective tissue.
Vitamin C deficiency results in unhydroxylated proline residues that stabilize collagen structure.
Clotting Disorders (Vit K)
Clotting disorder
Vitamin K deficiency results in uncarboxylated glutamate residues on prothrombin.
Warfarin
Anticlotting drug that targets carboylation of prothrombin.
Prion Disease
Dementia, ataxia, and death.
Caused by conversion of a normal protein which is transmissible and has multiple strains. Misfolded proteins aggregate.
Alzheimer’s Disease
Dementia (1st most common cause)
Misfolding of AB-42 (alpha/gamma secretase pathway) that forms amyloid plaques.
Alpha-Amanitin
Toxic substance found in death cap mushrooms.
Inhibits translocation of RNA Pol 2.
Rifampicin
Antibiotic.
Binds bacterial RNA Pol and prevents elongation.
Tamoxifen
Estrogen antagonist.
Binds to estrogen receptors without providing dimerization. Prevents transcriptional effect of estrogen receptors.
Rapamycin
Cancer drug.
Phosphorylates 4E-BP so that the initiation complex cannot be formed, downregulating translation.
Gleevec
Cancer drug.
Inhibits bcr-abl kinase, which prevents substrate phosphorylation and activation. Prevents tumor proliferation via aberrant bcr-abl gene.
Velcade
Treatment of multiple myeloma.
Inhibits a proteosome that degrades good proteins.
AZT / DDI
HIV drug.
Inhibits DNA synthesis by reverse transcriptase. Drugs mimic nucleotide, but without a 3’-OH, preventing polymerization.
Cisplatin
Cancer drug.
Base alkylating agent, that forms large covalent adducts to DNA.
Actinomycin D
Antibiotic/Cancer drug.
Intercalates into DNA and alters the structure, interfering with replication/transcription.
Etoposide
Cancer drug.
Target topoisomerases and cause the enzymes to leave breaks in DNA that cannot be repaired.
Puromycin
Antibiotic
Mimics the acceptor 3’ end of a tRNA. It binds in the ribosome during translation and covalently attaches to a growing polypeptide chain.
Acyclovir
HSV / VZV
Inhibits viral DNA polymerase by chain termination.
Quinolones
Antibacterial.
Targets DNA topoisomerases (gyrase)
