Research Focus
Cardiomyocytes derived from human induced pluripotent stem cells as a cellular model for hypertrophic cardiomyopathy
The research of our group focuses on cardiomyocytes (hiPSC-CMs) derived from human induced pluripotent stem cells (hiPSCs) that carry mutations in cardiac myosin-binding protein C (cMyBP-C). Mutations in cMyBP-C, along with mutations in beta-cardiac myosin (MyHC), are the most common genetic cause of hypertrophic cardiomyopathy, a serious heart disease that typically manifests macroscopically as pronounced thickening of the septum and the wall of the left ventricle. At the microscopic level, fibrosis of the heart muscle and a loss of cardiomyocyte alignment (disarray) are evident. These changes lead to progressive heart failure but can also result in arrhythmias and sudden cardiac death.
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