儿茶酚胺敏感性多形性室速的基因诊治进展

The progress of genetic diagnosis and treatment in catecholaminergic polymorphic ventricular tachycardia

儿茶酚胺敏感性多形性室速(CPVT)是具有较高猝死风险的罕见单基因遗传病.已知多种CPVT基因突变可通过影响肌浆网钙通道蛋白RyR2的功能,破坏细胞内钙稳态,触发室性心律失常,而依靠腺相关病毒载体(AAVs)及CRISPR/Cas9技术进行基因层面的干预有望为CPVT的治疗提供新思路.本文就其遗传特征及基因干预等领域的研究现状作一总结.

Catecholaminergic polymorphic ventricular tachycardia(CPVT)is a rare monogenic hereditary disease with high risk of sudden death.A series of CPVT related gene mutations have been found to affect the function of sarcoplasmic reticulum calcium channel protein RyR2,which could destroy the intracellular calcium homeostasis and trigger ventricular arrhythmias.Genetic intervention based on technologies of adeno-associated virus vectors(AAVs)and CRISPR/Cas9 emerges to be a new approach for treatment of CPVT.This paper briefly introduces the research progress of genetic characteristics and intervention in CPVT.