RT Journal Article
T1 Epigenetic Mechanisms in Hirschsprung Disease.
A1 Torroglosa, Ana
A1 Villalba-Benito, Leticia
A1 Luzón-Toro, Berta
A1 Fernández, Raquel María
A1 Antiñolo, Guillermo
A1 Borrego, Salud
K1 Hirschsprung disease
K1 enteric nervous system development
K1 epigenetic mechanisms
K1 neural crest cells
AB Hirschsprung disease (HSCR, OMIM 142623) is due to a failure of enteric precursor cells derived from neural crest (EPCs) to proliferate, migrate, survive or differentiate during Enteric Nervous System (ENS) formation. This is a complex process which requires a strict regulation that results in an ENS specific gene expression pattern. Alterations at this level lead to the onset of neurocristopathies such as HSCR. Gene expression is regulated by different mechanisms, such as DNA modifications (at the epigenetic level), transcriptional mechanisms (transcription factors, silencers, enhancers and repressors), postranscriptional mechanisms (3'UTR and ncRNA) and regulation of translation. All these mechanisms are finally implicated in cell signaling to determine the migration, proliferation, differentiation and survival processes for correct ENS development. In this review, we have performed an overview on the role of epigenetic mechanisms at transcriptional and posttranscriptional levels on these cellular events in neural crest cells (NCCs), ENS development, as well as in HSCR.
YR 2019
FD 2019-06-26
LK http://hdl.handle.net/10668/14190
UL http://hdl.handle.net/10668/14190
LA en
DS RISalud
RD Apr 10, 2025