MCB 2050 Lecture Notes - Lecture 9: Acute Lymphoblastic Leukemia, Oncogene, The Attractions
30 Jan 2018
School
Department
Course
Professor
Document Summary
Huntington"s disease (cid:894)hd(cid:895) (cid:894)hd is diffe(cid:396)e(cid:374)t i(cid:374) that (cid:455)ou do(cid:374)"t e(cid:454)p(cid:396)ess phe(cid:374)ot(cid:455)pes u(cid:374)til passed down to offspring. Autosomal dominant disorder (mhtt or hd: htt is huntingtin gene, mhtt for mutant huntingtin gene, htt is important in transcription, cell signaling, transport. Mhtt causes progressive degeneration of the central nervous system beginning at age 30-50 resulting in death in ~10-15 years after appearance of symptoms. Homozygous hd (vs heterozygous), same age of onset, but more rapid degeneration. Example of (cid:862)gain of function(cid:863) mutation where the mutant form of a protein has a different effect than the normal protein. (hd gene is still there, just not expressed. If you have more of them, they become neurotoxic). The mutant huntingtin protein (mhtt) cannot fold properly forming aggregates that are neurotoxic. Identification and cloning of a gene on the basis of its relative position on the chromosome (build map and confirm where it is).
