Iwasa Hiroyasu
Second Department of Internal Medicine, Gunma University School of Medicine.
Nihon Rinsho. 2002 Jul;60(7):1286-91.
In the past decade, molecular genetics has revealed that some life-threatening arrhythmogenic disorders, such as long QT syndrome, are due to mutated genes encoding ion channels that generate the cardiac action potential. Great efforts made in various fields have partly solved problems caused by unforeseen genetic diversity of these congenital arrhythmogenic disorders, while the genetics of these disorders has recently proved to be applicable to very wide-ranging conditions associated with sudden cardiac death, and increased knowledge about the human genome will revolutionize researches into arrhythmic diseases in future. The purpose of this review is to outline the recent advances and problems in the molecular genetics in long QT syndrome.
在过去十年中，分子遗传学研究表明，一些危及生命的致心律失常性疾病，如长QT综合征，是由编码产生心脏动作电位的离子通道的基因突变所致。各个领域所做的巨大努力在一定程度上解决了这些先天性致心律失常性疾病因不可预见的基因多样性所引发的问题，而这些疾病的遗传学最近已被证明适用于与心源性猝死相关的非常广泛的病症，并且对人类基因组认识的增加将在未来彻底改变心律失常疾病的研究。本综述的目的是概述长QT综合征分子遗传学的最新进展和问题。
