New study shows that hidden genes can be at the root of the severity of autism

Scientists at the University of Colorado's Anschutz Medical Campus have implicated a largely hidden part of the human genome in the severity of autism symptoms, a finding that could help to better understand the disorder and eventually develop clinical treatment.

The researchers discovered that critical genes are part of the human genome so complex and difficult to study that it has not been examined by conventional genome badysis methods.

In this case, the region codes for most copies of the Olduvai protein domain (formerly DUF1220), a highly duplicated gene coding family (~ 300 copies in the human genome) and highly variable implicated in both the DNA and the DNA. evolution of the human brain and in cognitive diseases.

The researchers, led by James Sikela, Ph.D., a professor in the Department of Biochemistry and Molecular Genetics at the CU School of Medicine, have badyzed the genomes of people with autism and have shown that as they are As the number of copies of Olduvai increased, the severity of the symptoms of autism worsened.

While the Sikela Lab has already shown this trend, this discovery has not been explored by other researchers because of the complexity of the Olduvai family.

"It took us several years to develop precise methods to study these sequences, so we understand perfectly why other groups have not joined." Sikela said. "We hope that by showing that the link with the severity of autism is preserved in three independent studies, we will urge other autism researchers to examine this complex family."

In order to provide more evidence that the badociation with the severity of autism is real, the Sikela laboratory has used an independent population and developed a different, higher resolution measurement technique. This new method also allowed them to target members of the Olduvai family who could be at the root of the link with autism.

Although autism is thought to have a significant genetic component, conventional genetic studies have failed in their efforts to explain this contribution, Sikela said.

"The current study further adds to the possibility that this lack of success is due to the fact that the main contributors to autism involve hard to measure, highly duplicated and highly variable sequences, such as those coding for the Olduvai family, and therefore, have never been measured directly in other studies on autism, "said Sikela.

The study was published today in the American Journal of Psychiatry.

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CU Anschutz Medical Campus