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

Research output: Contribution to journalReview articlepeer-review


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
Number of pages11
JournalDevelopmental Biology
Issue number2
Publication statusPublished - Sep 15 2016


  • Aganglionosis
  • Enteric nervous system
  • Enteric neuropathy
  • Gastrointestinal tract
  • Hypoganglionosis

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology


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