In a report that appeared on September 6, 2012 in the journal Science, researchers led by Joseph G. Gleeson, MD of the University of California, San Diego report that the administration of branched chain amino acids, which include isoleucine, leucine and valine, could help treat a type of autism accompanied by epilepsy.
The article describes the identification of mutations in the gene BCKDK (branched chain ketoacid dehydrogenase kinase) in families with autism, epilepsy, and intellectual disability. Individuals with the mutations have, among other characteristics, reductions in plasma branched chain amino acids caused by an acceleration in the metabolism of these compounds. In mice in which the gene BCKDK was mutated, neurobehavioral deficits were corrected by branched chain amino acid supplementation.
"Studying the animals was key to our discovery," remarked first author Gaia Novarino, PhD, who is a staff scientist in Dr Gleeson's laboratory. "We found that the mice displayed a condition very similar to our patients, and also had spontaneous epileptic seizures, just like our patients. Once we found that we could treat the condition in mice, the pressing question was whether we could effectively treat our patients."
"It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism," said Dr Gleeson, who is a professor in the UCSD Department of Neurosciences and a Howard Hughes Medical Institute investigator. "What was most exciting was that the potential treatment is obvious and simple: Just give affected patients the naturally occurring amino acids their bodies lack."
"We think this work will establish a basis for future screening of all patients with autism and/or epilepsy for this or related genetic mutations, which could be an early predictor of the disease," he added.
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