Auteurs
Borloz E - de Combarieu C - Bourcin L - Felix MS - Fulachier C - Mazet B - Roux JC
Journal
Neurobiology of disease
Abstract
Rett syndrome (RTT) is a severe neurological disorder caused by pathogenic variants in the MECP2 gene associated with gastrointestinal (GI) motility disorders strongly impacting patients' quality of life. Intestinal motility relies on coordinated neuronal activity in the enteric nervous system (ENS) where MECP2 is highly expressed. Here, we sought to determine whether cholinergic-mediated excitatory neuromuscular transmission could be affected in the ENS of a RTT mouse model and the functional consequences on intestinal motility.