Different Gene Mutations May Determine Severity, Type of Autism

Finding might explain why the disorder is never identical in patients, could improve diagnosis and treatment

By Robert Preidt

Monday, December 22, 2014

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MONDAY, Dec. 22, 2014 (HealthDay News) -- Different types of gene mutations may play a role in the severity and type of autism, new research suggests.

The findings could lead to improved diagnosis and treatments for the disorder, the researchers added.

No two people with autism have the exact type and severity of behaviors, according to background information from the study. Investigators analyzed hundreds of autism patients and nearly 1,000 genes to determine how gene mutations influence autism symptoms.

They found that more damaging genetic mutations usually result in more severe autism symptoms, that autism patients with little or no verbal skills often have mutations in genes that are more active in the brain, and that those with less severe autism symptoms were less likely to have mutations that completely shut down genes.

The researchers also found that gene mutations play a role in gender differences in autism. While autism is far more common in males, females with autism are more likely to have severe symptoms.

The genes that are mutated in females with autism have greater activity in the brain than those that are mutated in males with autism, according to the study published Dec. 22 in the journal Nature Neuroscience.

"If we can understand how different mutations lead to different features of [autism], we may be able to use patients' genetic profiles to develop accurate diagnostic and prognostic tools, and perhaps personalize treatment," senior study author Dennis Vitkup, an associate professor of systems biology and biomedical informatics at Columbia University's College of Physicians and Surgeons in New York City, said in a university news release.

SOURCE: Columbia University, news release, Dec. 22, 2014

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