Genetic and neuroimaging studies provide strong evidence that the gene CNTNAP2 (also known as CASPR2) is a critical risk factor for autism spectrum disorders. CNTNAP2 encodes a protein on the surface of neurons that is involved in interactions between neurons and glial cells in axons with a myelin sheath.

The CNTNAP2 protein is highly expressed at the embryonic stage, yet myelination does not take place until the postnatal stage, suggesting additional roles for CNTNAP2 in early brain development.

Songhai Shi and his team at Memorial Sloan-Kettering Cancer Center in New York City plan to use imaging and electrophysiology techniques in combination with mouse genetics and viral labeling approaches to uncover the function of CNTNAP2 in regulating the early structural and functional development of the brain’s cortex.

The researchers hypothesize that CNTNAP2 mediates the interaction between newborn neurons and their parent stem cells, thereby affecting the production, migration, differentiation and organization of neurons in the developing cortex. They plan to test this hypothesis by examining the function of CNTNAP2 in the developing mouse cortex.

These studies may reveal new principles underlying the structural and functional development of the mammalian cortex. They may also promote a deeper understanding of the molecules and brain systems involved in autism, thereby providing new ideas for early diagnosis and treatment.