Duke geneticists unraveling the tangled web of autism

DURHAM, N.C. -- Less than three years after beginning a search for genes that confer a risk of developing autism, Duke geneticist Margaret Pericak-Vance and her colleagues have found evidence of two defects that may be linked to the complex combination of behaviors called autistic spectrum disorder.

Such behaviors include failure to make eye contact, social withdrawal, lack of language, and repetitive behaviors such as rocking or head banging. Doctors believe that the disorder begins during development of the brain, possibly even before birth, and that the change prevents affected people from properly processing sensory information from their environment.

Pericak-Vance, director of the Duke Center for Human Genetics and lead investigator of the autism genetic studies at Duke, and her team located defects in tiny sections of chromosomes 15 and 7. And, for the first time, they said they have evidence of a genetic mechanism that hides the effect of some genes.

"You could say we have it narrowed down to a line-up of good suspects, but we still can't finger the culprit until we get direct evidence," Pericak-Vance said. "In this case, that most likely will be more than one gene. It will probably include variations of many genes that in combination interact to result in autistic behavior. Those details will come with continued research of our suspect genes."

The research was supported by the Duke's Center for Human Genetics, the National Alliance of Autism Research, and by grants from the National Institutes of Health.

The collaborative group of scientists, which included researchers and clinicians from Duke, the University of South Carolina, and Johns Hopkins University, located and collected genetic information on more than 100 families with at least two autistic children. By comparing the genes from parents and siblings to the genes of autistic children, the scientists were able to narrow their search to a few small pieces of chromosomes, the

Contact: Renee Twombly
Duke University Medical Center

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