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定义人类心律失常综合征的新范式:离子通道和转运蛋白相关基因突变的表型表现。

Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins.

机构信息

Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Rochester, Minn., USA.

出版信息

Circ Res. 2010 Aug 20;107(4):457-65. doi: 10.1161/CIRCRESAHA.110.224592.

Abstract

Over the past 15 years, gene mutations in cardiac ion channels have been linked to a host of potentially fatal human arrhythmias including long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. More recently, a new paradigm for human arrhythmia has emerged based on gene mutations that affect the activity of cardiac ion channel- and transporter- associated proteins. As part of the Circulation Research thematic series on inherited arrhythmias, this review focuses on the emerging field of human arrhythmias caused by dysfunction in cytosolic gene products (including ankyrins, yotiao, syntrophin, and caveolin-3) that regulate the activities of key membrane ion channels and transporters.

摘要

在过去的 15 年中,心脏离子通道中的基因突变与一系列潜在致命的人类心律失常有关,包括长 QT 综合征、短 QT 综合征、Brugada 综合征和儿茶酚胺多形性室性心动过速。最近,一种基于影响心脏离子通道和转运蛋白相关蛋白活性的基因突变的人类心律失常新范式已经出现。作为《循环研究》遗传性心律失常专题系列的一部分,这篇综述重点介绍了由细胞溶质基因产物(包括锚蛋白、yotiao、连接蛋白和 caveolin-3)功能障碍引起的人类心律失常的新兴领域,这些基因产物调节关键膜离子通道和转运体的活性。

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