先天性巨结肠的易感基因及表观遗传调控的研究进展

doi:10.16352/j.issn.1001-6325.2023.04.0700

基础医学与临床 ›› 2023, Vol. 43 ›› Issue (4): 700-705.doi: 10.16352/j.issn.1001-6325.2023.04.0700

先天性巨结肠的易感基因及表观遗传调控的研究进展

王泰垚¹, 郑丽飞^2*

首都医科大学基础医学院 1. 2019级五年制眼视光医学系;
2.生理学与病理生理学系,北京 100069

收稿日期:2021-11-01 修回日期:2022-04-15 出版日期:2023-04-05 发布日期:2023-04-03
通讯作者: ^*13581582937@163.com
基金资助:
北京市自然科学基金(5172006);首都医科大学2021年度第二课堂项目(D2KT2021037)

Advance in susceptibility genes and epigenetic regulation in Hirschsprung's disease

WANG Taiyao¹, ZHENG Lifei^2*

1. Department of Grade 2019 Five-year Ophthalmology of Basic Medical College;
2. Department of Physiology and Pathophysiology, Basic Medical College, Capital Medical University, Beijing 100069, China

Received:2021-11-01 Revised:2022-04-15 Online:2023-04-05 Published:2023-04-03
Contact: ^*13581582937@163.com

摘要/Abstract

摘要： 先天性巨结肠(HSCR)是一种由神经嵴细胞衍生的肠神经系统发育障碍性疾病,相关基因异常编码会影响神经嵴细胞在消化道中的迁移、增殖、分化或存活,导致远端肠无神经节细胞症。神经嵴细胞和周围环境的调节涉及各种基因、信号通路、转录因子和表观遗传机制。因此,肠神经系统发育过程中相关基因的突变或基因表达的变化可能参与先天性巨结肠的发病过程。本文综述了参与肠神经系统发育的相关机制,总结了主要的先天性巨结肠相关基因和表观遗传模式,如RET、EDNRB、DNA甲基化等促进神经嵴病变的发展。本文总结了至今为止先天性巨结肠发病原因的主要机制,为先天性巨结肠相关的研究提供了理论依据,为先天性巨结肠疾病的防治提供了新策略。

关键词: 先天性巨结肠, 肠神经系统, 表观遗传学

Abstract: Hirschsprung's disease(HSCR)is a disease resulted from abnormal enteric nervous system development. The abnormal coding of related genes may affect the migration, proliferation, differentiation or survival of neural crest cells in digestive tract and then result in distal intestinal aganglionosis. The regulation of neural crest cells and surrounding environment involves various genes, signal pathways, transcription factors and epigenetic mechanisms. Therefore, the mutation of related genes and the change of gene expression during the development of intestinal nervous system may be related to the pathogenesis of Hirschsprung's disease. This article reviews the relevant mechanisms involved in the development of enteric nervous system, and summarizes the main genes and epigenetic patterns related to Hirschsprung's disease, such as RET, EDNRB and DNA methylation, which can affect the development of neural crest disease. The review also summarizes the main pathogenesis of Hirschsprung's disease, providing a theoretical basis for the study of Hirschsprung's disease and recommends a new strategy for the prevention and treatment of Hirschsprung's disease.

Key words: Hirschsprung's disease, enteric nervous system, epigenetics

中图分类号:

R333

王泰垚, 郑丽飞. 先天性巨结肠的易感基因及表观遗传调控的研究进展[J]. 基础医学与临床, 2023, 43(4): 700-705.

WANG Taiyao, ZHENG Lifei. Advance in susceptibility genes and epigenetic regulation in Hirschsprung's disease[J]. Basic & Clinical Medicine, 2023, 43(4): 700-705.

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先天性巨结肠的易感基因及表观遗传调控的研究进展

Advance in susceptibility genes and epigenetic regulation in Hirschsprung's disease

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