About a fourth of children with autism also suffer from epilepsy. When researchers looked at two related families with both disorders, they found a particular gene mutation.
That abnormality speeded up the metabolism of amino acids called BCAA. Treating nerve stem cells from the families with BCAA supplements made the cells react normally. Scientists say giving the supplement to the patients also corrected their BCAA levels,
It's not clear yet whether the supplement reduces the symptoms of epilepsy and or autism in humans, but scientists say experiments in mice were successful. BCAA supplements are often used by bodybuilders.
"It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism," said senior author Joseph G. Gleeson, MD, professor in the UCSD Department of Neurosciences and 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."
The findings are published in the September 6, 2012 online issue of Science.