Possible Autism Gene Identified

Researchers participating in a large international study have determined two potential genetic links related to autism, findings that may greatly increase the medical community’s understanding of the disease. The results of the broad study, known as the Autism Genome Project, are to be published in the journal Nature Genetics.

“This isn’t the end, but it’s a major first step,” lead scientist Gerard Schellenberg, of the University of Washington, told the Seattle Times. “And it’s one of the few times almost everyone in the field is trying to work together.”

Autism Speaks, a non-profit organization dedicated to increasing awareness and research of autism, was one of the funding sources for the project. “I think the most important thing that the study shows is that the genetic causes of autism are likely to be varied,” Andy Shih, chief science officer for Autism Speaks, told Reuters. “The genetic mechanism involved is probably not uniform.”

According to Autism Speaks, “This research was performed by over 120 scientists from more than 50 institutions representing 19 countries who formed a first-of-its-kind autism genetics consortium, the Autism Genome Project (AGP). The AGP began in 2002 when researchers from around the world decided to come together and share their samples, data, and expertise to facilitate the identification of autism susceptibility genes.”

By using “gene chip” technology, scientists looked for genetic commonality in autistic individuals representing about 1,200 families. (Each of the participating families had at least two autistic patients.) The findings pointed to two possible genetic links: a previously unidentified region of chromosome 11, and neurexin 1, a member of a gene family that is likely important to neuronal contact and communication. By identifying neurexin as a potential “autism susceptibility gene,” scientists have focused attention on a group of neurons called glutamate neurons and their link to the disease.

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