Autism Risk Gene Controls Normal Brain Wiring, Report McLean Hospital Researchers

January 21, 2014

In a paper published by the Proceedings of the National Academy of Sciences, McLean Hospital researchers and collaborators report that a gene family linked to autism, EphB, is essential for proper brain wiring during development. These findings suggest that abnormal brain wiring that results from mutations in this gene family could contribute to autism symptoms.

“Using animal models, we were able to see that EphB is required for normal brain development. Mutations in EphB that compromise its function led to abnormal connections between key brain regions involved in processing of sensory information,” said Christopher Cowan, PhD, associate professor of Psychiatry, Harvard Medical School and McLean Hospital.

Recent genetic analysis had revealed an EPHB gene as a new candidate risk factor for human autism, so the investigators targeted these genes in animals to assess their role in the proper development of communication networks between the thalamus and the cortex, regions of the brain responsible for processing information from the senses, such as touch and hearing.

“Some individuals with autism show abnormalities in sensory perception and processing, including touch, sound and vision,” Cowan explained. “We found that EphB genes are essential for normal wiring of at least two key parts of the brain that process sensory information, particularly regions involved in touch and sound. Our findings suggest that defects in early brain wiring might underlie at least some of the sensory-associated symptoms found in individuals with autism spectrum disorders.”

Future work, supported in part by the Simons Foundation Autism Research Initiative (SFARI), seeks to extend these findings to better understand the relationship between EphB genes and the risk for developing autism. Understanding the underlying causes of autism represents the key hope for development of effective treatments.

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