心脏发育异常相关罕见病的表观遗传修饰基因研究进展

Advances in epigenetic modification genes in rare diseases with abnormal cardiac development

表观遗传修饰基因是一类其产物通过DNA甲基化、组蛋白修饰或染色质重塑修饰表观基因组的基因。越来越多的研究表明,表观遗传修饰基因突变是心脏发育异常相关罕见病的一个重要病因。此类疾病因表观遗传的组成成分改变,常累及包括心脏在内的多个器官系统。由于有效药物的缺乏、心血管畸形的复杂性,患儿的生命健康往往受到威胁。该文回顾了Tatton-Brown-Rahman综合征、歌舞伎综合征、Rubinstein-Taybi综合征、CHARGE综合征和Sifrim-Hitz-Weiss综合征这五种心脏发育异常相关罕见病的分子遗传学进展,主要阐述了相应表观遗传修饰基因突变致心血管畸形的作用机制,为该类疾病的临床诊断和治疗提供更为全面的参考依据。

Epigenetic modification genes are defined as genes whose products modify the epigenome directly through DNA methylation,histone modification or chromatin remodeling.More and more studies have shown that mutations in epigenetic modification genes are an important etiology of rare diseases with abnormal cardiac development.And these diseases usually affect multiple organs including heart due to the change of epigenetic components.Moreover,children′s lives and health are often threatened by a lack of effective drugs and complex cardiovascular malformations.This article reviews advances in molecule genetics of Tatton-Brown-Rahman syndrome,Kabuki syndrome,Rubinstein-Taybi syndrome,CHARGE syndrome and Sifrim-Hitz-Weiss syndrome,and mainly elaborates the mechanism of cardiovascular malformations caused by mutations in corresponding epigenetic modification genes,providing more comprehensive reference for clinical diagnosis and management.