UCLA scientists, in partnership with 30 research institutions across the country, have identified a new gene variant that is highly common in autistic children. And when researchers scrutinized the activity of the gene, known as CDH10, in the fetal brain, they discovered that it is most active in key regions that support language, speech and interpreting social behavior.
Published April 28 in the advance online edition of the journal Nature, the two findings suggest that CDH10 plays a critical role in shaping the developing brain and may contribute to a prenatal risk of autism.
A variant is a gene that has undergone subtle changes from the normal DNA yet is shared by a significant portion of the population.
"While this gene variant is common in the general population, we discovered that it occurs about 20 percent more often in children with autism," said study author Dr. Daniel Geschwind, director of the UCLA Center for Autism Treatment and Research. "A major change like this in the genetic code is too common to be a simple mutation it is a risk factor in the origin of the disease."
Using the largest population sample to date, the scientists systematically scanned the DNA of 3,100 individuals from 780 families nationwide. Each family had at least two autistic children.
The scan connected autism to a specific region of chromosome 5, which previous studies at UCLA and collaborating institutions had pinpointed as a hub for genetic variations linked to higher autism risk.
To verify the findings, Dr. Hakon Hakonarson at the Children's Hospital of Pennsylvania led the team in conducting a second scan on the DNA of 1,200 individuals from families affected by autism, as well as nearly 6,500 healthy controls. All participants shared European ancestry.
The scientists evaluated the relationship of more than half a million gene variants to autism and consistently discovered six changes that o
|Contact: Roxanne Moster|
University of California - Los Angeles