基因突变致心肌组织兰尼碱受体功能缺陷的研究进展  

Functional Defect of Ryanodine Receptor with Gene Mutations

作　　者：米青[1] 易岂建[1] 

机构地区：[1]重庆医科大学附属儿童医院心内科,重庆400014

出　　处：《心血管病学进展》2008年第B05期64-67,共4页Advances in Cardiovascular Diseases

摘　　要：兰尼碱受体是心肌细胞上的一种钙离子释放通道,当基因发生突变时可导致延迟后除极致心脏猝死性室性心动过速的发生,但到目前为止,具体的分子生物学机制却不是很清楚,可能与其调节蛋白-FK506结合蛋白的解离、Ca^(2+)激活域值降低及通道内部各功能域之间作用受损等引起的舒张期钙离子渗漏有关,现就关于基因突变所致兰尼碱受体功能障碍发生机制的各种学说做一综述。Cardiac ryanodine receptor（RyR2） governs the release of Ca^2＋ from the sarcoplasmic reticulum,which initiates muscle contracion. Mutations in RyR2 have been linked to ventricular tachycardia and sudden death,but the precise molecular mechanism is unclear,it may incriminate to the dissociation of FK506-binding protein, enhanced RyR2 luminal Ca^2＋ activation and defective regulation of interdomain interactions within RyR2. This article is a review of the recent theories about functional defect of ryanodine receptor with gene mutations.

关 键 词：兰尼碱受体 基因突变 CA^2+释放 室性快速心律失常 

分 类 号：R541[医药卫生—心血管疾病]