"Uncovering the Link Between Gene Mutation and Autism Development"

Researchers discovered that a frameshift mutation in the KMT2C gene, leading to haploinsufficiency, models ASD-like symptoms in mice, and unexpectedly resulted in increased expression of genes linked to ASD risk. Treatment with the drug vafidemstat showed promise in correcting these abnormalities, suggesting a potential therapeutic approach for ASD and similar conditions. This study challenges the belief that ASD may not be curable and opens doors to future research for pharmacologic treatment of ASD and other neurodevelopmental disorders.