THURSDAY, April 1, 2004 (HealthDayNews) -- For the first time, scientists have identified a strong link between a specific gene and autism.
The finding appears in the April issue of the American Journal of Psychiatry.
Researchers at Mount Sinai School of Medicine in New York City found a gene variant that appears to increase the risk of autism in a broad population. Previous studies identified links between rare genetic mutations and autism only in single families.
The Mount Sinai team screened a region on chromosome 2 in 411 families that have members with autism or autistic disorder. Several previous studies implicated this region on chromosome 2 as likely to be involved in autism.
The researchers found that genetic variations in one gene occur more often in people with autism and their family members. The affected gene codes for a protein involved in production of ATP, a molecule that fuels cells.
The mutations on this affected gene could result in problems with ATP production. Brain cells consume large amounts of energy, so even minor disruptions in their fuel supply could affect their ability to function normally.
The gene variants identified by the Mount Sinai researchers appear to be common. These variants don't cause autism on their own and people with these gene variants don't necessarily have any symptoms.
"Having one of these variants appears to approximately double an individual's risk for the disorder, but it is an accumulation of genetic factors that cause the disease. So, our current challenge is to identify more of these genes," study author Joseph Buxbaum, an associate professor of psychiatry, says in a prepared statement.
It's believed that autism or autistic disorder is caused by an accumulation of between five to 10 genetic mutations.
"Identifying all or most of the genes involved will lead to new diagnostic tools and new approaches to treatment," Buxbaum says.
More information
The Autism Society of America has more about autism.
