166-AP-00
EMBARGOED UNTIL 2 P.M. PST, THURS., NOV. 30, 2000
CHROMOSOME DELETIONS IN AUTISTIC PATIENT POINT TO POSSIBLE GENETIC LINKS TO AUTISM
Deleted Area Likely To Contain Genes Determining Risk of Autistic Behavior
Irvine, Calif. -- A 7-year-old patient with autism was found to have a chromosome with deleted segments of DNA. The segments are likely to contain genes that help determine susceptibility to the disorder, according to a study by a UC Irvine College of Medicine research team.
The study, which appears in the Dec. 4 edition of the American Journal of Medical Genetics: Neuropsychiatric Genetics, is the first to show this area of the chromosome to be missing in an autistic patient and may help scientists understand the genetic underpinnings of autism.
Dr. M. Anne Spence and Moyra Smith, professors of pediatric genetics, led a team which found that about 1,000 building blocks of DNA that constitute our genetic material were missing from the patient's 15th chromosome. The missing DNA could contain or control genes that play a role in controlling the incidence of autism.
"We found that a number of genes normally on the chromosome were deleted at the point of breakage in the deleted chromosome in our patient," said Spence. "This detailed information can help us try to match these deleted genes with suspected genes for autism and piece together how genes interact with the body to result in autism. We think this information will then help us uncover links that, once understood, could eventually result in a treatment for the disorder."
The researchers' work is part of a nationwide study of the causes of autism sponsored by the National Institutes of Health and other organizations. Autism, which has no known cause, affects as many as one in 500 Americans and usually appears in early childhood. Individuals with autism have impaired thinking processes, emotions and social abilities, causing them to become walled off from society.
Spence's group screened genetic material from the child, who previously had been diagnosed with autism. By screening one patient at a time, the researchers could focus their laboratory resources on a careful analysis of the structures of all 46 of the patient's chromosomes and alterations of genes within those chromosomes. The group found the deletions of the 15th chromosome in a region called 15q22 - q23.
"Heredity has long been suspected of playing a major role in autism, but identifying specific genes that make people more vulnerable to autism has been difficult," Spence said. "It is most likely brought about by the interaction of multiple genes, each contributing a small part in causing the disease. We are grateful to this patient's family and to other participants for allowing us to continue the research that we hope will put this complex genetic puzzle together and give us insight on the causes and treatment for autism."
The research group is studying other patients who have been diagnosed with autism and also is using brain-scanning technology to look for developmental and physiological changes in the brain that may occur in autism. Previously, the researchers led a national group of physicians and scientists that established new diagnostic and early intervention procedures for children with autism, which were adopted by the American Academy of Neurology.
The research was supported by grants from the National Institute of Child Health and Human Development and the National Alliance for Autism Research. Spence and Smith's colleagues in the study included Dr. Pauline Filipek, Charles Wu, Maureen Bocian, Simin Hakim and Charlotte Modahl, all of UCI.
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Contact:Andrew Porterfield(949) 824-3969[email protected]
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