Ehler Elisabeth
Randall Centre for Cell and Molecular Biophysics (School of Basic and Medical Biosciences), London, UK.
School of Cardiovascular Medicine and Sciences, British Heart Foundation Research Excellence Centre, King's College London, Room 3.26A, New Hunt's House, Guy's Campus, London, SE1 1UL, UK.
Biophys Rev. 2018 Aug;10(4):1121-1128. doi: 10.1007/s12551-018-0428-1. Epub 2018 Jun 5.
It has been known for several decades that mutations in genes that encode for proteins involved in the control of actomyosin interactions such as the troponin complex, tropomyosin and MYBP-C and thus regulate contraction can lead to hereditary hypertrophic cardiomyopathy. In recent years, it has become apparent that actin-binding proteins not directly involved in the regulation of contraction also can exhibit changed expression levels, show altered subcellular localisation or bear mutations that might lead to hereditary cardiomyopathies. The aim of this review is to look beyond the troponin/tropomyosin mechanism and to give an overview of the different types of actin-associated proteins and their potential roles in cardiomyocytes. It will then discuss recent findings relevant to their involvement in heart disease.
几十年来,人们已经知道,编码参与控制肌动球蛋白相互作用的蛋白质(如肌钙蛋白复合体、原肌球蛋白和肌球蛋白结合蛋白C)从而调节收缩的基因突变会导致遗传性肥厚型心肌病。近年来,很明显,不直接参与收缩调节的肌动蛋白结合蛋白也可能表现出表达水平改变、亚细胞定位改变或携带可能导致遗传性心肌病的突变。这篇综述的目的是超越肌钙蛋白/原肌球蛋白机制,概述不同类型的肌动蛋白相关蛋白及其在心肌细胞中的潜在作用。然后将讨论与它们参与心脏病相关的最新发现。