Published September 06, 2012
Researchers may have discovered a potential treatment for a rare form of autism marked by epileptic seizures – a simple nutritional supplement.
In a recent international study, a team of scientists from the University of California, San Diego and Yale University schools of medicine have identified a genetic mutation in certain patients suffering from this unique type of autism. After performing what is known as exome sequencing – a type of selective genome sequencing – the team found that these patients speed up the metabolism of specific amino acids called branched chain amino acids, or BCAAs.
According to Autism Speaks, approximately one-third of those suffering from autism also suffer from epilepsy, a neurological disorder marked by periods of seizure or convulsion. The discovery could lead to better understanding of the mechanisms behind autism and epilepsy, as well as lead to ways to treat the condition sooner.
After recognizing this deficiency in BCAAs, the researchers thought that a large supplement of amino acids would help to compensate for their faster metabolisms.
“These are amino acids we can’t produce in our bodies,” Gaia Novarino, a staff scientist in the UCSD Department of Neurosciences and the study’s first author, told FoxNews.com. “So we have to take them in our diet…Usually we are able to maintain constant normal levels of those amino acids. However, they would eat the same things that we do, and they have much lower levels of those amino acid.”
According to Novarino, people have developed a way to turn off the metabolic breakdown of these amino acids during times of starvation; however, the patients the researchers studied could not do this.
Novarino, along with senior author Dr. Joseph Gleeson, a professor in the UCSD Department of Neurosciences, examined two closely related families who had children with autism and history of seizures. Through exome sequencing, they analyzed the specific coding in the genome involved in the making of proteins – leading them to the mutated gene that typically regulates BCAAs.
To test their supplement theory, the team gave large doses of amino acids to mice that had been genetically engineered with the same genetic mutation found in those with autism and epilepsy. They were surprised to find that the supplement had very positive results all around.
“We are able to elevate the levels of the amino acids in the blood to normal levels,” Novarino said. “This breakdown was so fast that we thought we would never reach a normal range – so that [result] was very positive. We not only got a good range, but went a little above the normal range.”
Not only were they able to maintain good amino acid levels in the mice, but the scientists found the neurobehavioral symptoms were reversed at these levels. While they only tested the supplement in an animal model, they’re hoping this regimen could do the same for humans.
More specifically, the team hopes this gene mutation can be utilized to earlier diagnose this form of autism in babies.
“Those patients we found, some of them are turning 20 years old,” Novarino said. “It would be great to arrest all their symptoms, but it’s possible we won’t be able to do that…. They also have intellectual disability, because they didn’t learn for 20 years. It’s much more difficult to understand. Our first hope is to reduce the seizures.”
“However, what we think is that if we find cases of this in babies with this mutation, we have a much higher chance to cure the disorder,” Novarino said. “We could potentially prevent the disorder and the symptoms.”
Novarino hopes to further their research by continuing to study the animal model, in hopes to establish exactly when this mutation presents itself in infants. But she cautioned that this could be beneficial for only a small portion of those with autism spectrum disorder.
“We studied the special families where the parents are related to each other,” Novarino said. “When you look at those families, there are higher rates of mutations – that’s why you find these cases more frequently. We don’t know how frequent this disorder is in the general population, but it’s probably very rare.”