Study Links Angelman Syndrome to False Stress Signals Triggered by Enzyme Buildup
Researchers at Washington University in St. Louis have identified a molecular mechanism underlying Angelman syndrome, a rare neurodevelopmental disorder. Their study, published in Nature, reveals that the loss of the UBE3A gene leads to an abnormal accumulation of the enzyme asparagine synthetase (ASNS) in neurons. This buildup triggers a false cellular stress response, causing neurons to halt protein synthesis and growth, which results in microcephaly and behavioral deficits. In mouse models, genetically correcting this ASNS overabundance restored normal brain development and improved several behavioral phenotypes, suggesting a potential therapeutic target for the condition.