M2M Diseases Flashcards
Lesch-Nyhan Disease
Build up of purines
Gout
Build up of purines
Xeroderma Pigmentosum
Mutation in TFIIH
Cockayne’s Syndrome
Mutation in TFIIH
Avery, McCloud and McCarty Experiments
DNA as genetic material. DNA from killed virulent strain placed in with living non-virulent cells kills mice.
Franklin and Wilkins Experiments
X-ray diffraction suggesting a helical structure.
Watson and Crick discover definitive double-helical structure.
Craniosynostosis
Premature closure of the skull sutures in infants due to a mutation in the SSDBPs. Causes a hypermorphic allele that activates genes more strongly than it should.
Androgen insensitivity syndrome
Feminization or undermasculinization. Indifference of androgen receptors to androgen hormones. Caused by a mutation in the zinc-finger androgen receptor binding domain or ligand binding domain. This downregulates the transcription of genes controlled by male androgens.
Waardenburg syndrome
Deafness, pigmentation defects. Associated with mutations in the MITF (microphthalmia-associated transcription factor) gene (which codes for a bHLH binding protein that regulates melanocyte development).
Leukemia
haematopoietic (formation of blood cell components) disease involving chromosomal translocations over-activating fusion proteins that alter the activity of HATs or HDACs.
Rubinstein-Taybi syndrome
Results from mutations in one copy of CREB binding protein gene (haploinsufficiency); CBP is a widespread HAT important in development and its insufficiency has particularly drastic effects.
Thalassemia
Genetic disease where mutations destabilize hemoglobin by disrupting alpha helices. Causes anemia.
Hydroxylated Residue
Proline. Causes scurvy without enough Vitamin C. This is necessary for the triple helix in collage (major H-bonding).
What diseases can be detected using PCR?
Cystic Fibrosis, Beta-thalassemia….
Creutzfeldt-Jakob Disease
Fatal insomnia caused by inherited familial strains of a prion disease.
