Published on September 8, 2004 at 8:31 PM
In some cases of autism, duplications of DNA in the area of the Angelman gene that were inherited from the mother resulted in the disease. However, children who inherited the same kind of duplication from the father did not have the disease. In a study of brain tissue from 17 people with autism, Beaudet and his colleagues found one in which a control region of the gene implicated in Angelman syndrome had acquired a chemical change called DNA methylation.
Beaudet said that his model is consistent with data about the disease and presents fresh perspectives on autism. He hopes researchers will challenge and test it in the laboratory and clinic.
“We believe that this model is highly likely to apply to some small fraction of autism cases, but more importantly and more speculatively, we propose that it will explain the majority of cases of autism.
Others who participated in the research include Drs. Yong-hui Jiang, Trilochan Sahoo, Dani Bercovich, Jan Bressler, Catherine D. Kashork, Qian Liu, Lisa G. Shaffer and David W. Stockton of BCM, Dr. Richard S. Spielmanof the University of Pennsylvania School of Medicine and Drs. Roger E. Stevenson, Ron C. Michaelis, and Richard J. Schroer of the Greenwood Genetic Center in Greenwood, South Carolina.