Article
Mechanical dysfunction of the sarcomere induced by a pathogenic mutation in troponin T drives cellular adaptation.
The Journal of general physiology - 3 May 2021
Clippinger Sarah R, Cloonan Paige E, Wang Wei, Greenberg Lina, Stump W Tom, Angsutararux Paweorn, Nerbonne Jeanne M, Greenberg Michael J
Abstract excerpt
Familial hypertrophic cardiomyopathy (HCM), a leading cause of sudden cardiac death, is primarily caused by mutations in sarcomeric proteins. The pathogenesis of HCM is complex, with functional changes that span scales, from molecules to tissues. This makes it challenging to deconvolve the biophysical molecular defect that drives the disease pathogenesis from downstream changes in cellular function. In this...
Topics
- Calcium
- Cardiomyopathy, Hypertrophic
- Humans
- Mutation
- Sarcomeres
- Tropomyosin
- Troponin T