More than 200 genes related to autism identified – here's everything you need to know

Toronto: The researchers have developed a network of more than 200 genes related to autism, a breakthrough that will help develop new treatments for the common neurological disorder that would affect one in every 160 children worldwide. The new genes have been implicated in the control of often disrupted alternative splicing events in Autism 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 disruption of this process was closely related to the alteration of cerebral cabling and behavior in autism. "Our study revealed a mechanism underlying splicing of very short coding segments found in genes with genetic links to autism," said Benjamin Blencowe, professor at the Donnelly Center of the University of Ottawa. 39, University of Toronto.

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

Better known for its effects on social behavior, it is thought that autism is caused by cerebral cabling problems established during embryo development. Hundreds of genes have been linked to autism, making its genetic bases difficult to unravel. The alternative splicing of small gene fragments, or microexons, has emerged as a rare unifying concept in the molecular basis of autism.

To better decode it, the team used the CRISPR gene editing tool and removed each of the 20,000 genomic genes from cultured brain cells to determine which ones are needed for the CRISPR gene editing tool. Splicing of microexons.

They then identified 233 genes whose various roles suggest that microexons are regulated by a vast network of cellular components. Knowing the precise molecular mechanisms of microexon splicing will help guide future efforts to develop a therapeutic potential for autism and other disorders.

For example, since the splicing of microexons is disrupted in autism, researchers could look for drugs that can restore their levels to those seen in unaffected individuals.