Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3.

ABSTRACT: Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3^R451C ). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3^R451C compared to wild-ty

SUBMITTER: Hosie S 

PROVIDER: S-EPMC6606367 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature