More than 200 genes linked to autism identified – tech2.org

More than 200 genes linked to autism identified



ISLAMABAD, (UrduPoint / Pakistan Point News – November 4, 2018): Researchers have unraveled a network of more than 200 genes linked to autism, a breakthrough that will help develop new therapies for the common neurological disorder that is estimated to affect one in 160 children from all over the world.

The new genes were involved in the control of alternative splicing events that are often disorganized in autistic spectrum disorder (ASD).

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

The researchers had previously shown that the interruption of this process is closely related to the altered brain wiring and behavior found in autism.

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

"This new knowledge provides information on possible ways to direct this mechanism for therapeutic applications," Blencowe added in the article described in the journal Molecular Cell.

Best known for its effects on social behavior, it is believed that autism is caused by setbacks in brain wiring during the development of the embryo.

Hundreds of genes have been linked to autism, which makes its genetic base difficult to unravel. The alternative splicing of small fragments of genes, or microexons, has emerged as a rare and unifying concept in the molecular basis of autism.

To decode it better, the team used the CRISPR gene editing tool and removed each of the 20,000 genes in the genome of cultured brain cells to find out which ones are necessary for the splicing of microexons.

They then identified 233 genes whose diverse functions suggest that microexons are regulated by a broad network of cellular components.

Knowing the precise molecular mechanisms of the splicing of microexons will help guide future efforts to develop potential therapies for autism and other disorders.

For example, because the splicing of microexons is disrupted in autism, researchers may look for medications that can restore their levels to those seen in unaffected people.


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