The finding may help develop new treatment for kids with autism and epilepsy

Why do so many autistic children suffer from epilepsy? Northwestern Medicine researchers have uncovered a crucial brain protein that quiets hyperactive brain cells and is seen in unusually low amounts in autistic kids.

This protein can be detected in CSF fluid, making it a viable marker for diagnosing autism and potentially treating the disorder’s associated epilepsy.

Scientists are aware that when this gene is altered, it results in autism and epilepsy. Between 30% and 50% of children with autism also have seizures. Autism, which is 90% hereditary, affects 1 in every 58 children in the United States. 

Appropriately dubbed “catnap2,” the protein CNTNAP2 is produced by hyperactive brain cells. As children with autism and epilepsy do not have enough CNTNAP2, scientists discovered that their brains do not settle down properly, resulting in seizures.

For the study, Penzes and colleagues examined cerebrospinal fluid in people with autism and epilepsy, as well as in mice models. Although scientists have studied the cerebrospinal fluid of individuals with Alzheimer’s disease and Parkinson’s disease to aid in diagnosis and monitoring treatment response, this is the first study to demonstrate that it is a critical biomarker in autism.

The study will be published Dec. 17 in Neuron.

According to the authors, the new finding, published in Neuron, about CNTNAP2’s role in calming the brain in autism and epilepsy may help find new treatments.

“We can replace CNTNAP2,” says Peter Penzes, study lead author.

“We can make it in a test tube and should be able inject it into children’s spinal fluid, which will go back into their brain.” 

When brain cells are overstimulated, they generate more CNTNAP2, which floats away and binds to other brain cells to quiet them down. The protein also escapes into cerebrospinal fluid, where researchers were able to detect it. As a result, it gave them an idea of how much is created in the brain.

According to Penzes, the level in the spinal cord is a surrogate for the level in the brain.

Penzes’ lab is now conducting preclinical research on this approach.

Image Credit: Getty

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