<italic>TTN</italic>基因突变致儿童扩张型心肌病的研究进展

doi:10.7499/j.issn.1008-8830.2208163

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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。

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	郑奎
	娄美娜

关键词 ：扩张型心肌病, TTN基因, 肌联蛋白, 治疗, 儿童

Abstract：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.

Key words： Dilated cardiomyopathy TTN gene Titin Treatment Child

收稿日期: 2022-08-26

基金资助:河北省医学科学研究课题（20220714）。

通讯作者: 张英谦，女，主任医师。Email：zhangyingqian666@163.com。 E-mail: zhangyingqian666@163.com

作者简介: 郑奎，男，硕士研究生；

引用本文:

郑奎,娄美娜. TTN基因突变致儿童扩张型心肌病的研究进展[J]. 中国当代儿科杂志, 2023, 25(2): 217-222.

ZHENG Kui,LOU Mei-Na. Recent studies on dilated cardiomyopathy caused by TTN mutations in children[J]. CJCP, 2023, 25(2): 217-222.

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http://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2208163 或 http://www.zgddek.com/CN/Y2023/V25/I2/217

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