《生命科学》 2015, 27(10): 1209-1217

RyR2突变致心律失常机制与转化医学

闻松男，阮燕菲，杜　昕，董建增，马长生，刘　念*

(首都医科大学附属北京安贞医院心血管内科，北京 100029)

摘　要：摘 要：Ryanodine 受体(RyR2) 是位于心肌细胞肌浆网上的钙离子释放通道。作为心肌兴奋- 收缩偶联的重要组成部分，RyR2 功能紊乱在许多心脏疾病的发生和进展中发挥关键作用。儿茶酚胺敏感性多形性室性心动过速(CPVT) 与RyR2 基因突变相关。现对RyR2 致CPVT 的分子病理生理机制以及相应的治疗策略进行综述。这些新的治疗策略不仅适用于CPVT，也必将推动其他获得性钙调节紊乱相关性心脏病的研究。
    

Arrhythmogenesis of RyR2 mutation and translational medicine

WEN Song-Nan， RUAN Yan-Fei， Du Xin， DONG Jian-Zeng， MA Chang-Sheng， LIU Nian*

(Department of Cardiology， Beijing Anzhen Hospital， Capital Medical University， Beijing 100029， China)

Abstract: Abstratc: Ryanodine receptor (RyR2) is the primary calcium release channel on sarcoplasmic reticulum of cardiomyocytes. As a major component of excitation-contraction coupling， the dysfunction of RyR2 is responsible for the development and progression of many heart diseases. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is associated with mutations in RyR2 gene. Here we review the molecular pathophysiology of RyR2-associated CPVT and the innovative therapeutic strategies. The new therapeutic strategy targeting RyR2 might apply not only to patients with CPVT， but also to individuals with other heart diseases associated with intracellular calcium handling disorders.