Scientists Discover Human-Specific Genes Linked to Autism

Researchers from VIB-KU Leuven, Columbia University, and Ecole Normale Supérieure have identified two unique human genes, SRGAP2B and SRGAP2C, that influence synapse development and may contribute to neurodevelopmental disorders like autism, SciTech Daily reported yesterday.

Their study, published in Neuron, reveals a connection between these genes and SYNGAP1, a gene associated with intellectual disability and autism spectrum disorders.

The human brain’s extended synapse maturation process, crucial for advanced cognitive abilities, is disrupted in certain disorders. By disabling SRGAP2B and SRGAP2C in human neurons transplanted into mice, the team observed accelerated synapse development, resembling that of five to ten-year-old children.

The findings suggest that SRGAP2 genes enhance SYNGAP1 expression, potentially reversing defects in SYNGAP1-lacking neurons. Remarkably, the scientists discovered that the SRGAP2 and SYNGAP1 genes act together to control the speed of human synapse development.