Recent Findings from a Stem Cell Study Could Lead to New Autism Treatments
Researchers at the Sanford Stem Cell Institute, University of California San Diego, have gained insights into the social behaviors linked with Williams syndrome and its opposite genetic condition, 7q11.23 duplication syndrome, which may have implications for individuals with autism. Williams syndrome, characterized by its highly sociable nature often likened to a “cocktail party personality,” stems from the absence of genes in the 7q11.23 chromosomal region. Conversely, 7q11.23 duplication syndrome arises from gene duplication and presents with social deficits resembling autism. Typically, individuals with balanced genes in the 7q11.23 chromosomal region are neither excessively sociable nor withdrawn. In their recent study published in Cell Reports, the researchers delve into the role of the GTF2I gene in social variation, proposing it as a crucial factor in fetal brain development. Utilizing human pluripotent stem cells, they found that the absence of GTF2I led to increased cell mortality, decreased electrical function, and synaptic irregularities in brain organoids. The authors suggest that their findings could provide avenues for individuals with GFT2I-related autism. They suggest the possibility of developing drugs to regulate the expression of GFT21, thereby improving social interaction for individuals affected by the condition. Additionally, this intervention may benefit individuals with a normal GFT2I gene that was epigenetically deactivated during development and throughout life.
