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Over 200 genes linked to autism identified

Researchers have unraveled a network of more than 200 genes linked to autism, an advance that will help develop new therapies for the common neurological disorder that is estimated to affect one in 160 children worldwide.

The new genes were involved in controlling alternative splitting events that are often disturbed in autism spectrum disorder (ASD).

Alternative splicing is a process that functionally diversifies protein molecules – the cells' building blocks – in the brain and other parts of the body.

The researchers had previously shown that the disturbance of this process is closely linked to the changed brain's behavior and behavior in autism.

"Our study has revealed a mechanism that underlies the splitting of very short coding segments found in genes with genetic links to autism," said Benjamin Blencowe, professor at the University of Toronto Donnelly Center.

"This new knowledge provides insight into possible ways to target this mechanism for therapeutic applications," Blencowe added in the paper described in the journal Molecular Cell.

Best known for its effects on social behavior, autism is thought to be caused by brain clues that fall under embryonic development.

Hundreds of genes have been linked to autism, which makes the genetic reason difficult to recover. Alternative cleavage of small gene fragments, or microexons, has emerged as a rare, unifying concept within the molecular basis of autism.

In order to better decode it, the team used the CRISPR rescue tool and removed each of the 20,000 genes in the genome of cultured brain cells to find out which ones are required for microexposure.

They then identified 233 genes whose different roles suggest that microexons are regulated by a wide network of cellular components.

Knowing the exact molecular mechanisms for microexploration will help control future efforts to develop potential therapies for autism and other disorders.

For example, because the splitting of microexons is disturbed in autism, researchers can search for drugs that can restore their levels to those seen in unaffected individuals.



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