先天性巨结肠DNA甲基化的研究进展

Research advances of DNA methylation in Hirschsprung's disease

先天性巨结肠(Hirschsprung's disease,HSCR)是一种多基因与环境共同作用的复杂疾病,遗传易感性和胚胎期肠道微环境紊乱是其发病的两大主要原因,但其病因及发病机制仍不明确。随着对HSCR发病机制不断深入的研究,发现DNA甲基化异常可能参与神经嵴细胞的增殖、成熟、分化和迁移等过程,从而导致HSCR发生。

Hirschsprung's disease is a complex disease of multiple genes interacting with the environment.Genetic susceptibility and intestinal micro-environment disorders are two major causes.However,its exact etiology and pathogenesis have remained elusive.With the in-depth pathogenetic understanding of Hirschsprung's disease,abnormal DNA methylation may be involved in the process of proliferation,maturation,differentiation and migration of neural crest cells,leading to the occurrence of congenital megacolon.This review summarized recent research advances in DNA methylation of Hirschsprung's disease.