Researchers funded by the National Institutes of Health have identified a gene that may predispose people to developing autism. The gene, known as HOXA1, plays a crucial role in early brain development. The study was conducted by a research team in NIH's Collaborative Programs of Excellence in Autism and was published in the December issue of Teratology.
"These findings strongly suggest that a gene controlling early brain formation may underlie the development of autism in a large number of cases," said Duane Alexander, M.D., Director of the National Institute of Child Health and Human Development (NICHD) and chair of NIH's autism coordinating committee. The spectrum of disorders known collectively as autism frequently involve problems in communicating with others and difficulty interacting socially. Many people with autism exhibit repetitious hand and body movements. Roughly one in 500 persons may be affected by some form of the disorder. The research team was led by Jennifer Ingram, Ph.D., and Christopher Stodgell, Ph.D., of the University of Rochester School of Medicine and Dentistry in Rochester, New York. The research was conducted as part of the NIH Collaborative Program of Excellence in Autism (CPEA). This $42 million research initiative is an international network of ten research teams seeking to unravel the mysteries of autism. The network is co-funded by the NICHD, the National Institute of Deafness and Other Communication Disorders, and the National Center for Complementary and Alternative Medicine.
The researchers tested 57 people diagnosed with autism for a variant of the HOXA1 gene. Of these, 22--about 40 percent-had one copy of the variant. Only one person with autism carried two copies of the variant gene, said the study's senior investigator, Patricia M.Rodier, Ph.D., of the University of Rochester School of Medicine. When the researchers tested hundreds of people without autism, they found that people who had two cop
Contact: Bob Bock
NIH/National Institute of Child Health and Human Development