​Autism Gene: Scientists Learn More Research From Autism Study

Staff Reporter
Oct. 31, 2014

The Autism gene is made up of 33 variants and there may be dozens more that might be connected, according to researchers.

Scientists have recently identified 60 genes with a greater than 90% chance of increasing a child’s autism risk, according to CNN. Previous research has yielded only 11 genes that had been confirmed with this level of certainty. Up until now, researchers have only been able to identify nine gene mutations linked to the disorder, but now the number is much higher.

The new autism gene study was published in the journal Nature. While the number is 60, the study identifies dozens more that may also be linked to the disorder. Dr. Alexander Kolevzon, an associate professor of psychiatry and pediatrics at Icahn School of Medicine at Mount Sinai and a researcher on the study, told CBS News:

“When those genes are mutated, the communication between brain cells is severely affected such that even the basic process of learning and memory is disrupted.”

One group of mutations contributes to autism in high-IQ, high-functioning boys, one study found, while another group influences autism in girls and boys with low IQ, according to NPR. Michael Ronemus, a researcher at Cold Spring Harbor Laboratory and an author of one of the studies, wrote:

“There’s somewhat of a mechanism difference in the genes that are being hit and the way that gene function is being changed.”

The autism gene study is based on more than 14,000 DNA samples from children with the disorder and their parents, as well as unrelated individuals who served as the control group.

The findings from this study may bring new reason for optimism to the growing number of families touched by autism. Currently in the U.S., at least 1 in 68 children are diagnosed with autism each year. Dr. Kolevzon wrote about specific biological treatments.

“When you identify a gene in autism and you know what that gene function is and you know exactly how the protein affects brain cell connections, for example, you can start thinking about specific treatments biological treatments that can potentially reverse the deficits associated with that genetic mutation.”

As scientists learn more about the autism gene, it is a neurodevelopmental disorder characterized by impaired social interaction, verbal and non-verbal communication, and by restricted and repetitive behavior. The diagnostic criteria require that symptoms become apparent before a child is three years old. The disorder affects information processing in the brain by altering how nerve cells and their synapses connect and organize; how this occurs is not well understood.

What researchers do know is that autism has a strong genetic basis, although the genetics is complex. One study suggests that 52% of autism risk comes from common genetic variants and only 2.6% comes from rare mutations. This study also confirmed that most of the risk comes from genetic and not environmental factors.

The autism gene research was conducted in a partnership among 37 medical institutions through the support of the Autism Sequencing Consortium. The consortium shares patient data to identify obscure genetic patterns from thousands of genomes. Scientists hope the data will help them develop ways to prevent and treat the devastating disorder, The Inquisitr notes.

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