肥厚性心肌病
生物
肌肉肥大
内科学
表型
心肌肥大
心肌病
心力衰竭
孟德尔遗传
心脏病学
基因
遗传学
内分泌学
医学
作者
Houman Ashrafian,Charles Redwood,Edward Blair,Hugh Watkins
标识
DOI:10.1016/s0168-9525(03)00081-7
摘要
Genetic analysis of hypertrophic cardiomyopathy (HCM), a mendelian form of cardiac hypertrophy, indicates that the primary defect is in sarcomeric function. However, the initial proposal that depressed myocardial contraction leads to a 'compensatory' hypertrophy has proven inconsistent with laboratory and clinical evidence. Drawing on observations of mutant contractile protein function, together with mouse models and clinical studies, we propose that sarcomeric HCM mutations lead to inefficient ATP utilization. The suggestion that energy depletion underlies HCM is supported by the HCM-like phenotype found with mutations in a variety of metabolic genes. A central role for compromised energetics would also help explain the unresolved clinical observations of delayed onset and asymmetrical hypertrophy in HCM, and would have implications for therapy in HCM and, potentially, in more-common forms of cardiac hypertrophy and failure.
科研通智能强力驱动
Strongly Powered by AbleSci AI