ISLAMABAD, (UrduPoint / Pakistan Point News – November 4, 2018): Researchers have discovered a network of more than 200 genes linked to autism, an advance that will contribute to the development of new therapies for common neurological disease, of which one in 160 affected is children worldwide.
The new genes were involved in the control of alternative splicing events that are often disturbed in autism spectrum disorders (ASD).
Alternative splicing is a process that functionally diversifies protein molecules – building blocks of cells – in the brain and other parts of the body.
The researchers had previously shown that the disruption of this process is closely related to altered cerebral cabling and autism behavior.
"Our study has demonstrated a mechanism underlying the assembly of very short coding segments found in genes genetically linked to autism," said Benjamin Blencowe, a professor at Donnelly Center, University of Toronto.
"This new knowledge sheds light on possible ways to address this mechanism for therapeutic applications," Blencowe added in the paper described in the journal Molecular Cell.
It is best known for its effects on social behavior that autism is caused by disturbances during embryonic development.
Hundreds of genes have been linked to autism, making it difficult to unravel their genetic basis. Alternative splicing of small gene fragments or microexons has emerged as a rare, unifying concept in the molecular basis of autism.
To better decipher it, the team used the gene editing tool CRISPR and removed each of the 20,000 genes in the genome of cultured brain cells to find out which ones are required for microexon splicing.
They then identified 233 genes whose different roles suggest that micro-texts are regulated by a broad network of cellular components.
Knowledge of the exact molecular mechanisms of microexon splicing will help to develop future therapies for autism and other diseases.
For example, because the splicing of micro texts in autism is disturbed, researchers might look for drugs that are able to reduce their levels to the level of unaffected individuals.