PHYSCI 121 Lecture Notes - Lecture 12: Dilated Cardiomyopathy, Dystrophin, Smooth Muscle Tissue
Document Summary
Which gene is mutated to determine the type of muscular dystrophy. Many of the proteins of the complex are defective n some way during muscular dystrophy. Mutations in dystrophin result in dmd and bmd. Mutations in sacroglycan results in limb muscular dystrophies. Duchenne muscular dystrophy (dmd: mutations in the 2. 2 mb dystrophin gene, near complete absence of dystrophin in dmd. Truncated dystrophins - in mildly-affected becker muscular dystrophy (bmd) patients (mini- gene: progressive muscle wasting. Increasing fibrosis and adipocyte accumulation: respiratory or cardiac failure (late teens to early 30s dmd; bmd 20s-70s); dilated cardiomyopathy, heart failure, arrhythmias, mdx mouse and cxmd canine models - study of disease mechanisms and potential therapies. ~2. 2 mb of xp21 (1. 5%: due large size high mutation rate, 78 exons, 7 promoters, 14 kb mrna from upstream promoter, muscle expression type: smooth, cardiac, skeletal, and neurons, non-muscle expression: in most other tissues. Helps localize proteins to proper places within the muscle cell.
