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Gene Glitch A New Clue To Causes Of Autism

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The Associated Press

Published: January 10, 2008

A rare genetic variation dramatically raises the risk of developing autism, a large study showed, opening new research targets for better understanding and treating the disorder.

Research into the causes of autism has focused on genetic causes because so many families have multiple children with the disorder. Thus far, only about 10 percent of autism cases have a known genetic cause. Boston-area researchers estimate the gene glitch they've identified accounts for an additional 1 percent of cases.

They found that a segment of a chromosome which has genes linked to brain development and various developmental disorders was either missing or duplicated far more often in autistic people. The defect was inherited in some cases, but more often was the result of a random genetic accident.

The results from the Autism Consortium study, released online Wednesday by the New England Journal of Medicine, confirm those of smaller studies by U.S. and Canadian research groups in the past year. The consortium verified its findings by checking two other DNA databases.

"They really did nail it," said Andrew Zimmerman, director of the Kennedy Krieger Institute's Center for Autism & Related Disorders in Baltimore.

He predicted children newly diagnosed with autism or other developmental disorders will be tested for this defect on chromosome 16 and that studies of many more DNA samples may reveal other autism-related gene variations.

"We've provided very compelling evidence that this particular small stretch of the genome provides an important clue to the biological roots of autism," said lead researcher Mark J. Daly, an assistant genetics professor at Harvard Medical School.

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