Unraveling the Genomic 'Butterfly Effect' in Autism

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.