Unraveling the Genomic 'Butterfly Effect' in Autism
Originally Published 1 year ago — by Neuroscience News

Researchers at RIKEN Center for Brain Science have discovered that mutations within promoters in specific genome regions can indirectly affect autism spectrum disorder (ASD)-related genes due to the three-dimensional structure of the genome, challenging the traditional focus on protein-coding regions and direct mutations in ASD-related genes. This finding offers new insights into the complex genetic architecture of ASD and has implications for future diagnostic and therapeutic strategies, suggesting a need to look beyond direct gene mutations.