BGEN 3020 Lecture Notes - Lecture 27: Huntingtin, Statistical Hypothesis Testing, Protein Kinase

• School: University of Manitoba
• Department: Biochem. and Medical Genetics
• Course: BGEN 3020
• Professor: Merz

Document Summary

Amplify the repeat region of the gene. Determine the size on a gel: repeat size represented by the size on the gel. Huntington"s disease protein protein called huntingtin (htt) function not fully known: protein is present in many tissues, not just the neurological system. Widely expressed in mammals interacts biochemically with >100 other proteins function still unclear (after 25 years of study) diagram: expose a positively charged region that causes the protein to aggregate to other cells and tissues. Function: large protein (350 kda, no homologies with other proteins, maybe functions in trafficking neurons, mutant protein causes aggregates within neurons, this is a toxic protein. Huntington"s disease mouse models: over-expression of htt, ko of hd, knock-in of expanded cag hd. Htt is essential in mouse neurological development, but not later. Expanded cag mice mimic hd, but milder. Treatments are just to manage symptoms: e. g. psychological symptoms. No way to stop progression of the disease.