Genetic Research Offers New Hope For Autism Treatment
Researchers at UCLA have identified distinctive genetic markers in children with autism, that may lead to earlier diagnosis and better treatments in the future.
A study by Professor Rita M. Cantor and her associates found 20 percent more copy number variants or CNVs in the genes controlling brain development, in children with autism.
The study compared 995 participants with autism with 1,287 participants in a control group who did not have autism. The genetic makeup of each person was determined, in the largest such study to date. People with autism were found to have more CNVs overall, and especially more CNVs in certain genes regulating development of the brain.
CNVs are sections of DNA that are deleted, or that are needlessly duplicated. They seem to be more common in certain parts of the genetic code in children who have autism. While the genetic variations probably do not cause autism, they are one risk factor. Researchers agree that a variety of biochemical and environmental factors determine gene expression. In many cases, a virus can switch a gene on or off. It is not clear if that is the case with the autism or if CNVs interfere in brain development in another way.
Clearly, children with autism had more CNVs disrupting genes, according to Cantor, an expert in genetics and psychiatry at the David Geffen School of Medicine at UCLA.
CNVs are very common, and everyone has some, but the number can vary greatly from one individual to another. However, the location of CNVs in autistic children was different from the usual pattern.
The autism spectrum disorders combined affect about six individuals in every 1000, with three times more boys being affected than girls. Autism results in impaired neurological development, with symptoms of reduced social interaction, usually by the age of six and often by the age of three. Autism seems to alter how nerve cells are connected by synapses in ways that are not fully understood.
Advocacy groups suggest that identifying the specific genes involved in autism could produce biological treatments. This would be especially effective for children most severely affected by autism. It might also provide insight into the wide variations in individuals with autism spectrum disorders. This study opens doors for new understanding of the causes of autism, and more effective treatments.
By Joni Holderman, [email protected], contributing reporter for Mental Health News.