U research helps identify possible cause of autism

By Deborah Rafferty , Staff Writer

Researchers are one step closer to discovering the cause of autism.

U scientists contributed to a large international research collaboration to work toward identifying the cause of autism. The group identified a variation near a gene that provides evidence for a possible cause of the disorder. This gene discovery could give researchers new insight into a complex disease.

“This is one piece of a very large puzzle,” said Hilary Coon, co-author of the study and U professor of psychiatry. “It was thought to be the size of a tabletop. No one thought the puzzle would be as large as a barn floor.”

Autism, a neurodevelopmental disease that begins in childhood, can impair a person’s social interaction, communication and language. It can also lead to obsessive behavior. People with autism can take a common interest, such as baseball stats, and take it to an extreme level, Coon said. These impairments are not the same from one patient to another.

The gene in question, which is thought to be involved in nerve cells sending out fibers to conduct electrical impulses, is located near an area that has been connected with the development of autism. Variations of this gene can lead to some alteration in brain signals. This could be essential information to finding the cause of the disorder, Coon said.

However, no one knows specifically how this gene affects autism or individuals with the disorder8212;and it’s not the sole culprit. From what researchers have found, it is assumed that this is just one part of what is considered a complex disease, Coon said.

To conduct this research, scientists gathered a main sample of more than 1,000 families with at least two people affected by this disorder. With such a large study group, researchers were able to receive better, more widespread results. They then replicated the study findings in another sample using data collected from around the world and found similar results, Coon said.

“We’re chipping away at the iceberg,” Coon said. “It’s a complex problem. Without the families’ involvement, we’d never be able to do this research. The number of subjects involved is impressive.”

Their findings were published in Nature on Oct. 8.

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