Cardiac channelopathies: it's in the genes
Cardiac channelopathies: it's in the genes
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DOI：
10.1038/nm0504-463
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发表时间：
2004-05-01
期刊：
影响因子：
82.9
通讯作者：
Ackerman, MJ
中科院分区：
文献类型：
--
作者：
Ackerman, MJ
1995年，马克·基廷（Mark Keating）和同事们发现了导致先天性长QT综合征（一种心源性猝死的原因）的两个基因。协调心脏跳动的离子通道的扰动是这种疾病的核心原因。这一发现为室性心律失常的研究提供了一个分子模型，并使进一步解剖心脏表型中微妙的遗传缺陷成为可能。不久，这些发现将进一步转化为临床医学，预计将发布心脏病学领域首批全面的临床基因测试之一。
In 1995, Mark Keating and colleagues identified two genes responsible for congenital long QT syndrome, a cause of sudden cardiac death. Perturbations in the ion channels that orchestrate the beating heart were central to the disorder. This revelation provided a molecular model for the study of ventricular arrhythmias and enabled further dissection of the genetic defects underlying subtleties in the cardiac phenotype. Soon, these discoveries will be further translated to clinical medicine, with the expected release of one of the first comprehensive clinical genetic tests in cardiology.