线粒体
心脏功能不全
心脏病学
心肌病
肥厚性心肌病
内科学
医学
能量学
生物
心力衰竭
遗传学
生态学
作者
Sara Ranjbarvaziri,Kristina B. Kooiker,Mathew Ellenberger,Giovanni Fajardo,Mingming Zhao,Alison S. Vander Roest,R.A. Woldeyes,Tiffany T. Koyano,Robyn Fong,Ning Ma,Lei Tian,Gavin M. Traber,Frandics P. Chan,John Perrino,Sushma Reddy,Wah Chiu,Joseph C. Wu,Joseph Woo,Kathleen M. Ruppel,James A. Spudich
出处
期刊:Circulation
[Lippincott Williams & Wilkins]
日期:2021-10-21
卷期号:144 (21): 1714-1731
被引量:216
标识
DOI:10.1161/circulationaha.121.053575
摘要
Hypertrophic cardiomyopathy (HCM) is a complex disease partly explained by the effects of individual gene variants on sarcomeric protein biomechanics. At the cellular level, HCM mutations most commonly enhance force production, leading to higher energy demands. Despite significant advances in elucidating sarcomeric structure-function relationships, there is still much to be learned about the mechanisms that link altered cardiac energetics to HCM phenotypes. In this work, we test the hypothesis that changes in cardiac energetics represent a common pathophysiologic pathway in HCM.
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