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GEN News Highlights : Jun 13, 2007

Autism Protein Structure Illuminates Disease Pathway

Neuroligins partner with neurexins in synapse formation, which mutations disrupt.

As a result of mapping the structure of the protein complex implicated in autism spectrum disorders, investigators discovered how particular genetic mutations affect this disease and contribute to the developmental abnormalities.

Scientists at the University of California, San Diego, Skaggs School of Pharmacy and Pharmaceutical Sciences studied the neuroligin family of proteins that are encoded by genes known to be mutated in certain patients with autism.

“Normally, individual neuroligins are encoded to interact with specific neurexin partners,” notes Palmer Taylor, Ph.D., dean of the Skaggs School, Sandra & Monroe Trout professor of pharmacology, and co-principal investigator of the study. “The two partners are members of distinct families of proteins involved in synaptic adhesions, imparting stickiness that enables them to associate so that synapses form and have the capacity for neurotransmission.”

Incorrect partnering that results when a mutant neuroligin fails to properly align at synapses helps explain why the autism spectrum disorders are manifested in subtle behavioral abnormalities that are seen at an early age, according to the research. The study is published in the June issue of Structure.