KCNQ1 gain-of-function mutation in familial atrial fibrillation

Chen, Y.H.; Xu, Shuangbin; Bendahhou, Saı̈d

doi:10.1016/s1062-1458(03)00087-4

Cited by 202 publications

(297 citation statements)

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“…A missense mutation in Kv7.1 ( KCNQ1 ) resulting in the amino acid change S140G was first identified in a 4-generation family causing a gain-of-function phenotype that increases I Ks when the mutated channel was expressed with the β-subunits KCNE1 (formerly minK) and KCNE2 (formerly MiRP1) (109). A de novo gain-of-function mutation (V141M) was found responsible for a severe form of AF and short-QT syndrome in utero (224).…”

Section: Atriummentioning

confidence: 99%

Ion Channels in the Heart

Bartos

Grandi

Ripplinger

2015

Comprehensive Physiology

163

182

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Optimal cardiac function depends on proper timing of excitation and contraction in various regions of the heart, as well as on appropriate heart rate. This is accomplished via specialized electrical properties of various components of the system, including the sinoatrial node, atria, atrioventricular node, His-Purkinje system, and ventricles. Here we review the major regionally-determined electrical properties of these cardiac regions and present the available data regarding the molecular and ionic bases of regional cardiac function and dysfunction. Understanding these differences is of fundamental importance for the investigation of arrhythmia mechanisms and pharmacotherapy.

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Section: Atriummentioning

confidence: 99%

Ion Channels in the Heart

Bartos

Grandi

Ripplinger

2015

Comprehensive Physiology

163

182

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“…In 2003, Chen et al 13 performed linkage mapping in a four-generation family with autosomal dominant AF and identified a gain-of-function mutation in KCNQ1 , which encodes a potassium channel subunit responsible for the repolarising I Ks current. A number of subsequent studies identified mutations affecting the sodium channel gene SCN5A and its regulatory subunits, as well as genes governing cellular connectivity, calcium cycling, and cardiac development 14.…”

Section: Genetic Mapping Of Afmentioning

confidence: 99%

Genomic basis of atrial fibrillation

Bapat

Anderson

Ellinor

et al. 2017

Heart

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Atrial fibrillation (AF) is a prevalent arrhythmia associated with substantial morbidity, mortality and costs. Available management strategies generally have limited efficacy and are associated with potential adverse effects. In part, the limited efficacy of approaches to managing AF reflect an incomplete understanding of the biological mechanisms underlying the arrhythmia, and only a partial understanding of how best to individualise management. Over the last several decades, a greater understanding of genome biology has led to recognition of a widespread genetic susceptibility to AF. Through genome-wide association studies, at least 30 genetic loci have been identified in association with AF, most of which implicate mechanisms not previously appreciated to be involved in the development of AF. We now recognise that AF is a polygenic condition, yet a great deal of work lies ahead to better understand the precise mechanisms by which genomic variation causes AF. Understanding the genetic basis of AF could provide a better understanding of AF mechanisms and cardiovascular biology, inform the management of patients through risk-guided approaches and facilitate the development of novel therapeutics.

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“…The first familial AF causative gene, mutation (S140G) in the KCNQ1 gene on chromosome 11p15.5, was identified in a Chinese family 27. The KCNQ1 gene encodes the pore-forming subunit of the cardiac IKs (KCNQ1/KCNE1), KCNQ1/KCNE2 and KCNQ1/KCNE3 potassium channels.…”

Section: Basic Researchmentioning

confidence: 99%

Atrial fibrillation in mainland China: epidemiology and current management

Zhang

2009

Heart

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With the economic development of China, research in atrial fibrillation has improved progressively, but due to a lack of international communication, many significant achievements have not been widely recognised. A brief overview of epidemiology, current therapy and research on atrial fibrillation in mainland China is provided. Chinese electrophysiologists would like to contribute more to international research in cardiac electrophysiology.

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KCNQ1 gain-of-function mutation in familial atrial fibrillation

Cited by 202 publications

References 0 publications

Ion Channels in the Heart

Ion Channels in the Heart

Genomic basis of atrial fibrillation

Atrial fibrillation in mainland China: epidemiology and current management

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