Genetics of enteric neuropathies

Erwin Brosens, Alan J. Burns, Alice S. Brooks, Ivana Matera, Salud Borrego, Isabella Ceccherini, Paul K. Tam, Maria-Mercè García-Barceló, Nikhil Thapar, Marc A. Benninga, Robert M. W. Hofstra, Maria M. Alves

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36 Citations (Scopus)

Abstract

Abnormal development or disturbed functioning of the enteric nervous system (ENS), the intrinsic innervation of the gastrointestinal tract, is associated with the development of neuropathic gastrointestinal motility disorders. Here, we review the underlying molecular basis of these disorders and hypothesize that many of them have a common defective biological mechanism. Genetic burden and environmental components affecting this common mechanism are ultimately responsible for disease severity and symptom heterogeneity. We believe that they act together as the fulcrum in a seesaw balanced with harmful and protective factors, and are responsible for a continuum of symptoms ranging from neuronal hyperplasia to absence of neurons
Original languageEnglish
Pages (from-to)198-208
JournalDevelopmental biology
Volume417
Issue number2
DOIs
Publication statusPublished - 2016

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