Autism Risk Gene Linked to Differences in Brain Structure

Brain Wiring Altered in Carriers of the Risk Gene

Contact: Dr. Paul Thompson (310)206-2101 thompson@loni.ucla.edu

Brain Graphics by Emily Dennis, Jesse Brown, and Paul Thompson; Brain Wiring is Affected in People Carrying the Autism Risk Gene (click image for large versions). Large circles indicate network hubs whose eccentricity - a measure of brain connectivity - differs between groups of people with the autism risk genotype (CC) versus those who do not carry it (CT, TT genotypes). Network paths that both risk and non-risk groups have are in gray, those only present in the at-risk group are in red, and those only present in the non-risk group are in green.

[Full article, .pdf, 1.8MB]
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Research Summary - Science Daily Newswire (March 21, 2012)

Healthy individuals who carry a gene variation linked to an increased risk of autism have structural differences in their brains that may help explain how the gene affects brain function and increases vulnerability for autism. The results of this innovative brain imaging study are described in an article in the groundbreaking neuroscience journal Brain Connectivity, a bimonthly peer-reviewed publication from Mary Ann Liebert, Inc. The article is available free online at the Brain Connectivity website.

"This is one of the first papers demonstrating a linkage between a particular gene variant and changes in brain structure and connectivity in carriers of that gene," says Christopher Pawela, PhD, Co-Editor-in-Chief and Assistant Professor, Medical College of Wisconsin. "This work could lead to the creation of an exciting new line of research investigating the impact of genetics on communication between brain regions."

Although carriers of the common gene variant CNTNAP2 -- identified as an autism risk gene -- may not develop autism, there is evidence of differences in brain structure that may affect connections and signaling between brain regions. These disruptions in brain connectivity can give rise to functional abnormalities characteristic of neuropsychological disorders such as autism.

Emily Dennis and coauthors from UCLA School of Medicine (Los Angeles, CA), the University of Queensland, and Queensland Institute of Medical Research (Brisbane, Australia), used a sophisticated imaging technique to study the brains of healthy young adults who are carriers of CNTNAP2.

The study is freely available here.

For more information on the study, contact Paul Thompson: thompson@loni.ucla.edu

Journal Reference:

[1] Emily Larson Dennis, Neda Jahanshad, Jeffrey D Rudie, Jesse A Brown, Kori Johnson, Katie McMahon, Greig de Zubicaray, Grant Montgomery, Nicholas Martin, Margaret Wright, Susan Bookheimer, Mirella Dapretto, Arthur Toga, Paul Thompson. Altered Structural Brain Connectivity in Healthy Carriers of the Autism Risk Gene, CNTNAP2. Brain Connectivity, 2012; 120229030236004 DOI: 10.1089/brain.2011.0064 [.pdf, 1.8MB]

Media stories on other research projects can be found here and here.

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