摘要
编码肌联蛋白(titin)的TTN基因突变是扩张型心肌病(dilated cardiomyopathy,DCM)遗传病因中最常见的突变类型。该文就当前国内外对TTN基因突变导致儿童DCM可能的分子发病机制(转录、翻译后修饰等)、临床表型及基因治疗等研究做一总结,以期为今后精准治疗TTN基因突变导致的儿童DCM提供参考。
The mutations of TTN gene that encodes titin are the most common mutation type among the genetic causes of dilated cardiomyopathy(DCM).This article reviews the worldwide studies on potential molecular pathogenesis(transcription,post-translational modification,etc.),clinical phenotypes,and gene therapies of pediatric DCM caused by TTN mutations,with the hope of providing a reference for the precision treatment of pediatric DCM caused by TTN mutations.
作者
郑奎
娄美娜(综述)
张英谦(审校)
ZHENG Kui;LOU Mei-Na;ZHANG Ying-Qian(Department of Cardiology,Hebei Children's Hospital/Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease,Shijiazhuang 050031,China)
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2023年第2期217-222,共6页
Chinese Journal of Contemporary Pediatrics
基金
河北省医学科学研究课题(20220714)。
