Discovery of new brain protein could help doctors diagnose autism and help treat epilepsy

By Georgia Lambert via SWNS

The discovery of a new protein in the brain could help doctors diagnose children with autism - and help treat epilepsy.

Up to 50 percent of autistic children also have epilepsy.

Now American scientists have discovered a brain protein that quiets overactive brain cells is at abnormally low levels in kids with autism.

The protein is detected in the cerebrospinal fluid, making it a promising marker to diagnose autism and according to the researchers, it could even play a role in treating those who also have epilepsy.

The experts know that when this gene is mutated, it causes a double whammy of autism combined with epilepsy.

Autism is a 90 percent genetic developmental disorder that affects one in 58 children in the US.

According to the National Autistic Society, the disorder belongs to around 700,000 adults and children in the UK and it alters the way they communicate and interact with the world around them.

Nicknamed "catnap2," the protein CNTNAP2, is produced by the brain cells when they become overactive.

Scientists have found that because the brains of autistic and epileptic kids don't contain enough CNTNAP2, their brains don't know how to "calm down," which leads to them suffering from seizures.

Dr. Peter Penzes, the director of the Center for Autism and Neurodevelopment at Northwestern University Feinberg School of Medicine, was the study's lead author.

The experts knew that the answers could be lying within the cerebrospinal fluid because it is already home to a marker that is used when diagnosing and measuring the response to treatment in patients with Alzheimer's and Parkinson's disease.

Dr. Penzes and his colleagues went ahead and analyzed the cerebrospinal fluid in people with autism and epilepsy, and then again in mouse models.

Their breakthrough discovery of the catnap2 protein is the first study showcasing how important it is as a biomarker in autism.

Dr. Penzes explained how understanding CNTNAP2's role in calming the brain in autism and epileptic brains may lead to new treatments.

"We can replace CNTNAP2. We can make it in a test tube and should be able to inject it into children’s spinal fluid, which will go back into their brain," he said.

Dr. Penzes’ lab is currently working on this treatment in preclinical research.

"The level in the spinal cord is proxy for the level in the brain," he said.

"When brain cells are too active because of overstimulation, they produce more CNTNAP2, which floats away and binds to other brain cells to quiet them down."

Dr. Penzes went on to say that the protein leaked into the cerebrospinal fluid, where they were able to measure it and that is what clued them up on how much was produced in the brain.

The findings were published in the journal Neuron.