TTN基因突变致儿童扩张型心肌病的研究进展

郑奎; 娄美娜

doi:10.7499/j.issn.1008-8830.2208163

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中国当代儿科杂志 ›› 2023, Vol. 25 ›› Issue (2) : 217-222. DOI: 10.7499/j.issn.1008-8830.2208163

综述

TTN基因突变致儿童扩张型心肌病的研究进展

郑奎^1,2, 娄美娜^1,2

作者信息 +

Recent studies on dilated cardiomyopathy caused by TTN mutations in children

ZHENG Kui, LOU Mei-Na

Author information +

文章历史 +

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。

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.

导出引用

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 https://doi.org/10.7499/j.issn.1008-8830.2208163

ZHENG Kui, LOU Mei-Na. Recent studies on dilated cardiomyopathy caused by TTN mutations in children[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(2): 217-222 https://doi.org/10.7499/j.issn.1008-8830.2208163

参考文献

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