RT Journal Article
T1 Genetics of enteric neuropathies.
A1 Brosens, Erwin
A1 Burns, Alan J
A1 Brooks, Alice S
A1 Matera, Ivana
A1 Borrego, Salud
A1 Ceccherini, Isabella
A1 Tam, Paul K
A1 García-Barceló, Maria-Mercè
A1 Thapar, Nikhil
A1 Benninga, Marc A
A1 Hofstra, Robert M W
A1 Alves, Maria M
K1 Aganglionosis
K1 Enteric nervous system
K1 Enteric neuropathy
K1 Gastrointestinal tract
K1 Hypoganglionosis
AB 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.
YR 2016
FD 2016-07-15
LK http://hdl.handle.net/10668/10278
UL http://hdl.handle.net/10668/10278
LA en
DS RISalud
RD Apr 11, 2025