Abnormalities in brain development associated with autism may be caused by abnormally high activity of the beta-catenin signaling pathway. Anjen Chenn and his colleagues at the University of Illinois at Chicago, with Eric Courchesne and his colleagues at the University of California, San Diego, aim to test the hypothesis that beta-catenin signaling levels are higher in cells from individuals with autism than in controls.

If so, this would support the idea that overactive beta-catenin signaling underlies the brain overgrowth seen in autism.

The Chenn laboratory has shown that beta-catenin signaling plays a critical role in regulating the proliferation and differentiation of neural progenitors — the cells that produce neurons and glia — during cortical development. Chenn’s team has expertise in the functional analysis of beta-catenin signaling both in cell culture and in vivo using a variety of genetic, biochemical and functional assays.

Courchesne’s group has obtained extensive anatomic and molecular evidence indicating that brain overgrowth in autism may result from hyperactive beta-catenin signaling. The researchers plan to use cells from individuals identified by the Courchesne group, as well as samples from the Simons Simplex Collection.

The proposed experiments address the broader hypothesis that critical signaling pathways that are altered or misregulated during the development of autism can be analyzed in cells obtained from individuals with autism. The findings from these experiments may lead to the development of new diagnostic and prognostic tools.