肥厚型心肌病基因治疗策略的研究进展  

Research progress of gene therapy strategies in hypertrophic cardiomyopathy

作　　者：马越 刘放[1] 刘晓丽[1] 潘丽丽[2] 周玉杰[1] MA Yue;LIU Fang;LIU Xiao-li;PAN Li-li;ZHOU Yu-jie(Department of Cardiology,Beijing Anzhen Hospital,Capital Medical University,Beijing Institute of Heart Lung and Blood Vessel Disease,Beijing 100029,China;Department of Rheumatism ,Beijing Anzhen Hospital,Capital Medical University,Beijing Institute of Heart Lung and Blood Vessel Disease,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院心内科,北京市心肺血管疾病研究所,冠心病精准治疗北京市重点实验室,首都医科大学冠心病临床诊疗与研究中心,北京市100029 [2]首都医科大学附属北京安贞医院风湿免疫科,北京市心肺血管疾病研究所,冠心病精准治疗北京市重点实验室,首都医科大学冠心病临床诊疗与研究中心,北京市100029

出　　处：《中国心血管病研究》2019年第2期97-100,107,共5页Chinese Journal of Cardiovascular Research

基　　金：国家重点研发计划“精准医学研究”重点专项(编号:2017YFC0908800);北京市医院管理局“登峰”计划专项经费资助(编号:DFL20150601);北京市医院管理局“使命”计划专项经费资助(编号:SML20180601);.北京市医院管理局临床医学发展专项经费资助(编号:ZYLX201303,XMLX201601).

摘　　要：肥厚型心肌病(hypertrophic cardiomyopathy,HCM)是染色体异常相关的心脏疾病,是青少年和运动员心源性猝死的最常见病因,也是心力衰竭及卒中的常见原因.目前已发现近40种致病基因与HCM的发生发展有关,针对HCM的基因治疗策略在细胞水平及动物模型中已得到初步研究成果,常见的基因治疗策略包括基因组编辑、外显子跳跃、等位基因特异性沉默、RNA反式剪接和基因替代等.本文就HCM致病基因及基因治疗策略的最新研究进展进行综述.Hypertrophic cardiomyopathy is a heart disease associated with chromosomal abnormalities.It is the most common cause of sudden cardiac death in adolescents and athletes.It is also a common cause of heart failure and stroke.So far,nearly 40 pathogenic genes have been found to be related to the occurrence and development of HCM.Preliminary research have been obtained on gene therapy strategies for HCM at cellular level and in animal models.Common gene therapy strategies include genome editing,exon jumping,allele specific silencing,RNA trans-splicing and gene substitution.This article reviews the latest research progress of HCM pathogenic genes and gene therapy strategies.

关 键 词：肥厚型心肌病 基因治疗 

分 类 号：R542.2[医药卫生—心血管疾病]