Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM.
Circulation research（2023）
摘要
HCM-related :c772G>A mutation invariably impairs sarcomere energetics and cross-bridge cycling. Compensatory electrophysiological changes (eg, reduced potassium channel expression) appear to preserve twitch contraction parameters, but may expose patients to greater arrhythmic propensity and disease progression. Therapeutic approaches correcting the primary sarcomeric defects may prevent secondary cardiomyocyte remodeling.
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关键词
founder effect,hypertrophic cardiomyopathy,myosin binding protein-C,personalized medicine,sarcomere energetics
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