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