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Epigenetic Mechanisms in Hirschsprung Disease
Ana Torroglosa1,2, Leticia Villalba-Benito3,4, Berta Luzón-Toro5,6
1Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain. atorroglosa-ibis@us.es.
International Journal of Molecular Sciences
|June 29, 2019
Summary
Hirschsprung disease (HSCR) arises from issues in enteric precursor cell development. This review explores how epigenetic changes impact neural crest cells and enteric nervous system formation in HSCR.
Area of Science:
- Developmental Biology
- Genetics
- Epigenetics
Background:
- Hirschsprung disease (HSCR) results from failures in enteric precursor cell (EPC) development during enteric nervous system (ENS) formation.
- Proper ENS development relies on regulated gene expression, with alterations leading to neurocristopathies like HSCR.
- Gene expression is controlled by epigenetic, transcriptional, post-transcriptional, and translational mechanisms.
Purpose of the Study:
- To review the role of epigenetic mechanisms in neural crest cell (NCC) development.
- To examine the impact of epigenetic regulation on ENS formation.
- To understand the involvement of epigenetic mechanisms in Hirschsprung disease.
Main Methods:
- Literature review of epigenetic mechanisms.
- Analysis of transcriptional and post-transcriptional regulation.
- Focus on neural crest cells, ENS development, and HSCR.
Main Results:
- Epigenetic mechanisms play a crucial role at both transcriptional and post-transcriptional levels.
- These mechanisms influence key cellular events: migration, proliferation, differentiation, and survival.
- Dysregulation of these epigenetic processes is implicated in HSCR pathogenesis.
Conclusions:
- Epigenetic regulation is fundamental for correct ENS development.
- Alterations in epigenetic mechanisms contribute to the etiology of Hirschsprung disease.
- Further research into epigenetic factors may reveal novel therapeutic targets for HSCR.
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