Researchers identify cellular stress trigger behind Angelman syndrome

Researchers at Washington University School of Medicine in St. Louis reported a new mechanism linking loss of the maternal UBE3A gene to neuronal stress in Angelman syndrome.

The study, published in Nature on Oct. 21, shows that the absence of UBE3A causes neurons to activate a stress response, which interferes with normal brain development in infants.

Angelman syndrome, a rare neurodevelopmental disorder characterized by intellectual disability, facial features, motor deficits, epilepsy and microcephaly, results from loss-of-function of the maternal UBE3A copy while the paternal copy remains silenced.

Understanding this stress pathway may guide future therapeutic strategies aimed at preventing the brain growth failure that defines the disease.