UCSF researchers pinpoint cell type and brain region affected by gene mutations in autism

Monday, December 02, 2013

A collaborative study led by the laboratory of Matthew W. State, MD, PhD, has found that rare mutations in a diverse set of autism spectrum disorder (ASD) genes point to a key role for deep-layer cortical projection neurons in the pathogenesis of autism. Jeremy Willsey, a graduate student in the State lab, is lead author of the manuscript which appears in the Nov. 21 issue of Cell. The research was also highlighted on the blog of National Institutes of Health Director Francis S. Collins, MD, PhD.

The State lab, along with the laboratories of Nenad Sestan, MD, PhD, and James Noonan, PhD, at Yale University, Bernie Devlin, PhD, at the University of Pittsburgh Medical Center and Kathryn Roeder, PhD, at Carnegie Mellon University, found that the functionally diverse set of ASD genes they examined converged on one cell type, in one brain region, and at one specific period during human mid-fetal development. These results help to establish key parameters for future functional experiments aimed at elucidating the cellular, molecular and circuit level pathophysiology of ASD.

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