Department of Medicine, UCSD School of Medicine, La Jolla, CA, USA.
J Investig Med. 2009 Dec;57(8):849-55. doi: 10.2310/JIM.0b013e3181c5e074.
Cardiomyopathy is a heart muscle disease caused by decreased contractility of the ventricles leading to heart failure and premature death. Multiple conditions like ischemic heart disease (atherosclerosis), hypertension, diabetes, viral infection, alcohol abuse, obesity and genetic mutations can lead to cardiomyopathy. Single gene mutations in sarcomeric proteins, Z-disk-associated proteins, membrane/associated proteins, intermediate filaments, calcium cycle proteins as well as in modifier genes have been linked to cardiomyopathy. Clinical practice guidelines have been formulated by the American Heart Association and the Heart Failure Association of America on how to genetically evaluate patients with cardiomyopathy. To illustrate the concept that alterations in genes cause cardiovascular disease, this review will focus on two membrane-associated proteins, vinculin and talin. We will discuss the general function of vinculin/metavinulin as well as talin1 and talin2, with emphasis on what is understood about their role in the cardiac myocyte and in whole heart.
心肌病是一种由心室收缩力下降引起的心肌疾病,导致心力衰竭和过早死亡。多种情况,如缺血性心脏病(动脉粥样硬化)、高血压、糖尿病、病毒感染、酗酒、肥胖和基因突变,都可能导致心肌病。肌节蛋白、Z 盘相关蛋白、膜/相关蛋白、中间丝、钙循环蛋白以及调节基因的单基因突变与心肌病有关。美国心脏协会和美国心力衰竭协会制定了临床实践指南,介绍如何对心肌病患者进行基因评估。为了说明基因改变会导致心血管疾病,本综述将重点介绍两种膜相关蛋白,即粘着斑蛋白和桩蛋白。我们将讨论粘着斑蛋白/拟粘着斑蛋白的一般功能,以及桩蛋白 1 和桩蛋白 2,重点介绍它们在心肌细胞和整个心脏中的作用。