Diseases Flashcards
Xeroderma Pigmentosum
TFIIH related. Also a result of mutations in global NER
Cockaynes Syndrome
TFIIH related. Also a result of transcription coupled NER
Trichothiodystrophy
TFIIH
Marfan’s Syndrome
Mutation in the splice sites of fibrillin gene transcripts
Thalassemia
Mutation in beta-globin promoter sequence
Hemophilia B-Leyden
Deficiency of Factor 9. Androgen receptor that can be activated during puberty and reduce symptoms
Fragile X-Syndrome
CGG repeats appear in 5’ UTR sequence of FMR1 and expand during successive generations. Causes high methylation into promoter and thus inhibits txn. Cognitive deficits.
Craniosynostosis
Premature closure of skull sutures. Related to Msx2 homeodomain changes.
Androgen Insensitivity Syndrome
Mutated zinc fingers that aren’t activated by androgen. Males take on female characters.
Waardenburg Syndrome
Mutation in bHLH binding to related MITF. Deafness and apigmentation
Rubinstein-Taybi Syndrome
Creb binding protein (CBC a HAT) haploinsufficiency. Mental and facial issues.
Hemoglobin Wayne/ Hemoglobin Constant Spring
Sense mutations in hemoglobin. Wayne is frameshift and Constant Spring is substitution
Congenital Disorder of Glycosylation (CDG)
Glycosylation results in protection, stability, and solubility of AA. Enzymes in glycosylation pathway are deficient. Skin, sugar, and neurological disorders
Cystic Fibrosis
Misfolded CFTR
Alzheimer’s Disease
Beta-amyloid is cleaved by gamma secretase and accumulates into plaques then turns neurons into NF tangles. Apolipoprotein somehow related with 2 protecting, 3 common, and 4 disposed to AD. Inherited mutations in prensilin 1 or 2 result in accumulation of A-beta.
