Research Finds New Gene in Search for Autism Cure

I am always amazed at Scientific discovery and enthused when a discovery is made in medicine. At the University of Washington a medical discovery has been made that can affect the chances of a child becoming autistic. A gene related to autism has been identified by scientists and other members of an international research team there.

The team also found the area of a chromosome where another possible autism gene is located. These discoveries further establish basic concepts about the possible cause of the devastating disease. As always, they also offer new hope for the treatment of the diease.

Over 120 scientists from 19 different countries in the "Autism Genome Project" were involved in the new research, as reported in today's online edition of the journal Nature Genetics.

Gerard Schellenberg, a UW geneticist and a lead scientist in the , said "This isn't the end, but it's a major first step. ... And it's one of the few times almost every one in the field is trying to work together,"

The researchers worked with nearly 1,200 families that had two or more children with autism. 200 of the families came mostly from the Northwest. Many came from the Northwest because of the UW's very active autism research. The unprecedented number of participants required years of recruitment.

The Centers for Disease Control and Prevention said in early February that a new 14-state study suggested autism spectrum disorder could be present in as many as one in 150 children.

Scientists identified 40 to 50 genes that appear to be linked to autism, four or five of which are more likely than others to play a part in the disease.

One gene, "neurexin 1," and an area of chromosome 11 with another gene, were recently identified by The Autism Genome Project. Both were found in many of the families that participated. "These two genetic sites are the best we've seen as (possible) autism genes," said Schellenberg.

Neurexin 1 is related to the release of glutamate. Glutamate is a chemical that is "critical in the development of learning and in forming memories, and if you have a disruption in the (glutamate system), you have a problem," explained Dawson.

The scientists don't know yet how the chromosome 11 region is involved in autism. Pinpointing a specific gene in the region that is linked to the disease is the object of the next phase of the research, beginning soon.

The difficulty and creativity used in analyzing this kind of research is explained by Dr. Bernie Devlin, University of Pittsburgh, who served as a corresponding author on the project. "Although we know autism is highly heritable, complex gene interactions and submicroscopic anomalies create a din of statistical noise that drowns out detection of signals from linked sites in the genome. To amplify these signals, we brought to bear gene chip technology with a huge sample, and also screened for these fine-level anomalies, factoring them into the analysis."

Families participating in the recent phase will continue in the project. They spend many hours at the UW and other institutions undergoing tests and interviews.

"I am so impressed with their dedication," said Dawson, "They have a great commitment in wanting to understand the cause of autism and to help other families in the future through this research."