Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility

Nature Communications, Journal Year: 2025, Volume and Issue: 16(1)

Published: March 6, 2025

The co-occurrence of autism and gastrointestinal distress is well-established, yet the molecular underpinnings remain unknown. identification high-confidence, large-effect genes offers opportunity to identify convergent, underlying biology by studying these in context system. Here we show that expression enriched human prenatal gut neurons their migratory progenitors, suggesting development and/or function may be disrupted autism-associated genetic variants, leading dysfunction. document prevalence issues patients with variants sixteen genes, highlighting dysmotility, consistent potential enteric neuron Using Xenopus tropicalis, individually target five (SYNGAP1, CHD8, SCN2A, CHD2, DYRK1A) observe neuronal progenitor migration for each. Further analysis DYRK1A reveals perturbation causes dysmotility vivo, which can ameliorated treatment either two serotonin signaling modulators, identified vivo drug screening. This work suggests atypical contributes commonly seen individuals a productive therapeutic pathway.

Language: Английский

Knowledge of microalgal Rubiscos helps to improve photosynthetic efficiency of crops

Planta, Journal Year: 2025, Volume and Issue: 261(4)

Published: March 5, 2025

Language: Английский