遗传性心律失常的基因治疗进展  

Research progress on gene therapy for hereditary arrhythmias

作　　者：王一斐 李庆[1] 罗江滢 赵宇彤 张萍[1] Wang Yifei;Li Qing;Luo Jiangying;Zhao Yutong;Zhang Ping(Department of Cardiology,Beijing Tsinghua Changung Hospital,School of Clinical Medicine,Tsinghua University,Beijing 102218,China)

机构地区：[1]清华大学附属北京清华长庚医院心血管内科、清华大学临床医学院,北京102218

出　　处：《中国医学前沿杂志（电子版）》2024年第7期91-96,共6页Chinese Journal of the Frontiers of Medical Science(Electronic Version)

基　　金：北京市医院管理局登峰计划专项经费(DFL20190902);北京清华长庚医院青年启动基金(12022C1007)。

摘　　要：遗传性心律失常是因单基因或多基因突变影响心肌离子通道或心肌结构进而影响心肌电生理特征的一类疾病,是导致心律失常乃至心源性猝死的一类重要原因。目前的主要治疗方案包括通过抗心律失常类药物、除颤器植入及手术等改善症状及降低猝死风险,但均无法阻止疾病进展,且患者需要长期承受疾病相关症状、治疗相关不良反应以及潜在猝死风险威胁。基因治疗则可通过编辑突变基因等多种方式达到稳定、长期的治疗效果,但多数治疗手段仍停留于实验室探索阶段。本文将对目前遗传性心律失常的基因治疗方法及研究进展进行综述。Hereditary arrhythmias are a group of diseases caused by single or multiple gene mutations that affect myocardial ion channels or myocardial structure,thereby influencing the electrophysiological characteristics of the myocardium.They represent an important cause of arrhythmias and even sudden cardiac death.Current main treatment options include the use of antiarrhythmic drugs,implantable defibrillators,and surgical interventions to improve symptoms and reduce the risk of sudden death.However,these approaches are unable to stop disease progression,and patients will endure disease-related symptoms,treatment-related side effects,and the potential threat of sudden death in the long term.Gene therapy,through various methods such as editing mutated genes,offers the potential for stable and long-term therapeutic effects,but most treatment modalities remain in the experimental stage.This review provides an overview of current gene therapy approaches and research progress in hereditary arrhythmias.

关 键 词：遗传性心律失常 基因治疗 长QT综合征 肥厚型心肌病 碱基编辑器 

分 类 号：R541.7[医药卫生—心血管疾病] R450[医药卫生—内科学]