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人类心力衰竭的遗传原因。

Genetic causes of human heart failure.

作者信息

Morita Hiroyuki, Seidman Jonathan, Seidman Christine E

机构信息

Department of Genetics, Harvard Medical School, Division of Cardiology, Brigham and Women's Hospital, and Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA.

出版信息

J Clin Invest. 2005 Mar;115(3):518-26. doi: 10.1172/JCI24351.

Abstract

Factors that render patients with cardiovascular disease at high risk for heart failure remain incompletely defined. Recent insights into molecular genetic causes of myocardial diseases have highlighted the importance of single-gene defects in the pathogenesis of heart failure. Through analyses of the mechanisms by which a mutation selectively perturbs one component of cardiac physiology and triggers cell and molecular responses, studies of human gene mutations provide a window into the complex processes of cardiac remodeling and heart failure. Knowledge gleaned from these studies shows promise for defining novel therapeutic targets for genetic and acquired causes of heart failure.

摘要

使心血管疾病患者处于心力衰竭高风险的因素仍未完全明确。最近对心肌病分子遗传原因的深入了解突出了单基因缺陷在心力衰竭发病机制中的重要性。通过分析突变选择性干扰心脏生理某一组成部分并触发细胞和分子反应的机制,对人类基因突变的研究为深入了解心脏重塑和心力衰竭的复杂过程提供了一个窗口。从这些研究中获得的知识有望为确定心力衰竭遗传和后天病因的新治疗靶点提供依据。

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