Basic & Clinical Medicine ›› 2023, Vol. 43 ›› Issue (4): 700-705.doi: 10.16352/j.issn.1001-6325.2023.04.0700

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

WANG Taiyao1, ZHENG Lifei2*   

  1. 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: *

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

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