兰尼碱受体2基因突变与多种类型遗传性心律失常相关OACSTPCD
Association between mutation of ryanodine receptor 2 gene and various types of inherited arrythmia
兰尼碱受体 2(ryanodine receptor 2,RyR2)是心肌细胞肌质网上重要的钙离子释放通道,在介导心肌收缩和舒张中发挥关键作用.近年来,越来越多的研究报道,编码 RyR2 蛋白的RYR2 基因突变可引发儿茶酚胺敏感性多形性室性心动过速、长 QT综合征、特发性心室颤动和心房颤动等多种类型遗传性心律失常.本文旨在综述RYR2 基因突变导致的RyR2 离子通道功能异常与多种类型遗传性心律失常的发生相关.全面认识RyR2 相关的多种遗传性心律失常,将为临床诊疗遗传性心脏疾病开拓思路.
Ryanodine receptor 2(RyR2)is an important calcium ion release channel in the sarcoplasmic reticulum of myocardial cells,which plays a crucial role in modulating the cardiac contractility and relaxation.In the recent years,more and more studies have reported that mutations in the RYR2 gene encoding RyR2 protein can lead to various types of inherited cardiac arrhythmias,including catecholaminergic polymorphic ventricular tachycardia(CPVT),long QT syndrome(LQTS),idiopathic ventricular fibrillation(IVF)and atrial fibrillation(AF).This review aims to summarize the functional abnormalities of RyR2 ion channel caused by RYR2 gene mutations and their associations with various types of inherited arrhythmias.A comprehensive understanding of RyR2 related inherited arrhythmias will be beneficial for exploring a new idea for clinical diagnosis and treatment of hereditary heart diseases.
吕婷婷;孟令丙;李思源;刘连丰;张萍
北京清华长庚医院 心脏内科 清华大学临床医学院,北京 102218
兰尼碱受体2心律失常钙离子释放
Ryanodine receptor 2ArrhythmiaCalcium release
《中国医学前沿杂志（电子版）》 2024 (002)
儿茶酚胺敏感性多形性室性心动过速患者新基因突变RyR2-R1760W对心肌细胞钙泄漏的影响及机制研究
13-18 / 6
National Natural Science Foundation of China(82100333),Beijing Tsinghua Changgung Hospital Fund(12021C1007,12021C1013) 国家自然科学基金(82100333);北京清华长庚医院青年启动基金(12021C1007,12021C1013)
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