Last week, we brought you a story about a possible treatment for a specific genetic mutation that causes epilepsy and autism in mice. This specific mutation in mice is treatable with an over-the-counter dietary supplement, BCAA (branched chain amino acids). Over the weekend it was announced that humans with the exact same gene mutations were discovered. The number of people who may benefit is relatively small, but the hope for this treatment is great in that small group.
For a small number of individuals with autism, a supplement may be an effective form of treatment. Researchers have discovered a type of autism with epilepsy that is associated with a gene mutation, and that it could respond to certain amino acids.
Not all forms of autism are the same
The term “autism” encompasses several forms and subtypes of this developmental disorder. Autism spectrum disorder includes Asperger syndrome, childhood disintegrative disorder, Rett syndrome, pervasive developmental disorder, and classical autism (autistic disorder). However, approximately 25 percent (or perhaps as high as one-third) of individuals with autism also experience epilepsy, which is a brain disorder associated with recurring seizures or convulsions.
In the subset of individuals who have both autism and epilepsy, scientists from the University of California, San Diego, and Yale University have discovered that some have a gene mutation that accelerates the metabolism of branched chain amino acids (BCAAs), which leaves them with a deficiency of this element.
Branched chain amino acids, according to WebMD, are essential nutrients that include isoleucine, leucine, and valine. Individuals must get BCAAs from their diet, and they are found in meat, dairy foods, and legumes.
BCAA supplementation is not new. These amino acids are sometimes used to treat a variety of conditions, ranging from Lou Gehrig’s disease to brain conditions associated with liver disease, tardive dyskinesia (a movement disorder), to poor appetite in elderly patients who have kidney failure. Even athletes use BCAAs to help them improve their exercise performance and reduce muscle damage during exercise.
In the new study, researchers evaluated two closely related families who had children with autism spectrum disorder, seizures or abnormal electrical brain wave activity, and gene mutation associated with BCAAs. Analysis of cultured neural stem cells from the children revealed that they responded normally to BCAAs, which indicated the condition might be treatable using BCAA supplementation.
In an accompanying study of mice that had the mutated gene, the researchers found that giving them BCAA supplementation improved their autism-like symptoms. This finding supported the notion that providing the supplement to people with autism and epilepsy might result in the same response.
Joseph G. Gleeson, MD, the study’s senior author and a professor in the UCSD Department of Neurosciences and Howard Hughes Medical Institute investigator, commented that based on their findings, “the potential treatment is obvious and simple: Just give affected patients the naturally occurring amino acids their bodies lack.”
Other supplements for autism
Several other nutritional supplements have been proposed as being beneficial for individuals who have autism. One is the antioxidant N-acetylcysteine (NAC), which was studied at Stanford University and the Cleveland Clinic. The investigators reported that NAC supplements significantly reduced irritability in children who took the supplement.
In a study by Autism Speaks, investigators looked at children who had gastrointestinal (GI) problems, which is a common complication among those with autism. They found that children who used digestive enzymes and probiotics, and who followed a diet that was free of gluten, casein, and/or processed sugars were less likely to experience GI problems.
Concerning the latest research, Gleeson noted that this new discovery “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.” For now, experts are uncertain how many individuals who have autism and/or epilepsy also have this gene mutation.
Novarino G et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012 Sept 6 online. doi:10.1126/science.1224631