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 article

12 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
Number of pages11
JournalDevelopmental Biology
Volume417
Issue number2
DOIs
Publication statusPublished - Sep 15 2016

Fingerprint

Intestinal Pseudo-Obstruction
Enteric Nervous System
Gastrointestinal Motility
Hyperplasia
Gastrointestinal Tract
Neurons
Protective Factors

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology

Cite this

Brosens, E., Burns, A. J., Brooks, A. S., Matera, I., Borrego, S., Ceccherini, I., ... Alves, M. M. (2016). Genetics of enteric neuropathies. Developmental Biology, 417(2), 198-208. https://doi.org/10.1016/j.ydbio.2016.07.008

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

In: Developmental Biology, Vol. 417, No. 2, 15.09.2016, p. 198-208.

Research output: Contribution to journalReview article

Brosens, E, Burns, AJ, Brooks, AS, Matera, I, Borrego, S, Ceccherini, I, Tam, PK, García-Barceló, MM, Thapar, N, Benninga, MA, Hofstra, RMW & Alves, MM 2016, 'Genetics of enteric neuropathies', Developmental Biology, vol. 417, no. 2, pp. 198-208. https://doi.org/10.1016/j.ydbio.2016.07.008
Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I et al. Genetics of enteric neuropathies. Developmental Biology. 2016 Sep 15;417(2):198-208. https://doi.org/10.1016/j.ydbio.2016.07.008
Brosens, Erwin ; Burns, Alan J. ; Brooks, Alice S. ; Matera, Ivana ; Borrego, Salud ; Ceccherini, Isabella ; Tam, Paul K. ; García-Barceló, Maria Mercè ; Thapar, Nikhil ; Benninga, Marc A. ; Hofstra, Robert M W ; Alves, Maria M. / Genetics of enteric neuropathies. In: Developmental Biology. 2016 ; Vol. 417, No. 2. pp. 198-208.
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