Washington D.C. [USA], Oct 14 (ANI): A recent study has found that most cases of autism appear to be associated with the appearance of mutations">new mutations that are not inherited from the parents.
These mutations">new mutations occur in regions of the genome that contain genes, which code for proteins, as well as in "non-coding" regions, which do not contain genes but which regulate gene activity, the researchers found.
Lead researcher Evan Eichler from the University of Washington said, "We are excited by these early findings because they suggest that multiple mutations">new mutations in a child, both coding and non-coding, are important to understand the genetics of the disease."
Although some forms of autism appear to run in families, most cases occur in families with no history of the disorder.
These newly formed, or de novo, mutations are found in the affected child's genome, but not in either parent's genome. They are unlikely to occur in the affected child's siblings.
By comparing these family members, the authors hope to identify mutations">new mutations that were more likely to appear in the affected child and more likely to be associated with an increased risk of developing autism.
They compared almost the entire genomes of the study participants, including the regions that do not include genes.
Although these "non-coding" regions do not include instructions for making proteins, they play an important role in regulating protein production by turning genes on and off and dialing their activity up or down.
The researchers observed that mutations that tended to appear in non-coding regions of the genomes occurred in areas known to influence gene activity in neurons located deep in the brain in a structure called the striatum.
This part of the brain is thought to play a role in some of autism behaviours.
Typically, the striatum coordinates planning, reward perception, motivation and other cognitive functions.
The research is published in journal Cell. (ANI)