中国医学前沿杂志（电子版）2024，Vol.16Issue(2)：13-18,6.DOI:10.12037/YXQY.2024.02-03
兰尼碱受体2基因突变与多种类型遗传性心律失常相关
Association between mutation of ryanodine receptor 2 gene and various types of inherited arrythmia
摘要
Abstract
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.关键词
兰尼碱受体2/心律失常/钙离子释放Key words
Ryanodine receptor 2/Arrhythmia/Calcium release引用本文复制引用
吕婷婷,孟令丙,李思源,刘连丰,张萍..兰尼碱受体2基因突变与多种类型遗传性心律失常相关[J].中国医学前沿杂志（电子版）,2024,16(2):13-18,6.基金项目
National Natural Science Foundation of China(82100333),Beijing Tsinghua Changgung Hospital Fund(12021C1007,12021C1013) 国家自然科学基金(82100333) （82100333）
北京清华长庚医院青年启动基金(12021C1007,12021C1013) （12021C1007,12021C1013）
