The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes

被引：8

作者：

Harmer, Stephen C. ^{[1
]}

Tinker, Andrew ^{[1
]}

机构：

[1] Barts & London Queen Marys Sch Med & Dent, William Harvey Res Inst, Ctr Heart, Charterhouse Sq, London EC1M 6BQ, England

来源：

BIOLOGICAL CHEMISTRY | 2016年 / 397卷 / 07期

关键词：

cardiac arrhythmia; HERG; KCNQ1; long QT syndrome; potassium channel; SCN5A; sodium channel; sudden cardiac death; CELL-DERIVED CARDIOMYOCYTES; MESSENGER-RNA DECAY; POTASSIUM CHANNEL; I-KS; COMPOUND MUTATIONS; CYSTIC-FIBROSIS; NONSENSE MUTATIONS; CARDIAC-ARRHYTHMIA; INTERVAL DURATION; VENTRICULAR REPOLARIZATION;

D O I：

10.1515/hsz-2015-0306

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Long QT syndrome refers to a characteristic abnormality of the electrocardiogram and it is associated with a form of ventricular tachycardia known as torsade-de-pointes and sudden arrhythmic death. It can occur as part of a hereditary syndrome or can be acquired usually because of drug administration. Here we review recent genetic, molecular and cellular discoveries and outline how they have furthered our understanding of this disease. Specifically we focus on compound mutations, genome wide association studies of QT interval, modifier genes and the therapeutic implications of this recent work.

引用

页码：679 / 693

页数：15

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