Kennedy Krieger Institute Study Finds Molecular Abnormalities in Brains of People with Autism

November 13, 2001
Findings suggest possibility for diagnosis, treatment

BALTIMORE, MD - In a study to be published today in the journal Neurology, researchers at Kennedy Krieger Institute have identified molecular abnormalities in brain samples of individuals with autism using the new technology, microarray analysis.

The study marks the first time the new technology, developed out of the Human Genome Project, has been used in the study of autism. The technology, which allows researchers to measure the activity of thousands of genes in a tissue sample, rather than a specific system or pathway, previously had been used mainly in the study of cancers and organ diseases.

By measuring the expression of 9,000 genes in autistic brain samples, and comparing those to healthy brain tissue, Kennedy Krieger researchers observed molecular differences in the chemical connections between cells, or synapses. Genes involved in the glutamate neurotransmitter system - the most prevalent stimulating, or "excitatory," neurotransmitter system in the brain, important in learning and memory functions - were found to be altered in autistic brain samples.

Previous studies had identified anatomical and pathological changes in regions of autistic brains, and researchers have long suspected that autism is caused by faulty brain wiring or abnormal brain chemistry that are present from birth. This theory has been difficult to prove, however, because researchers have not been able to study the problem early in a child's life. The main symptoms of the disorder, severe social withdrawal and ritualistic and self-injurious behaviors, generally are not diagnosed until children are around 3 years old.

The new research supports the long-held theory and offers real potential for diagnostic tests and treatments in the future.

"This research is not saying that there is a genetic cause for autism, but it does prove that the synaptic activity is different in individuals with autism," said Gary W. Goldstein, president and CEO of Kennedy Krieger Institute. "The translation of this study into meaningful therapy is going to take a great deal of research, but it opens the door into different ways to use drugs to help."

Kennedy Krieger Institute is dedicated to helping children and adolescents with disabilities resulting from disorders of the brain achieve their potential and participate as fully as possible in family, community and school life.

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