Scientists have found a gene, mutations in which lead to autism and epilepsy in children

American scientists have discovered previously unknown mutations in the CNTNAP2 gene that can cause autism and epilepsy in children. About this, as reported by TASS, writes the magazine Neuron.

“The good news is that we can now synthesize an intact version of the CNTNAP2 protein that this gene is responsible for producing. It can be injected into the cerebrospinal fluid of children, which will suppress the abnormally high activity of neurons in their brain, “- said one of the authors of the study, professor at Northwestern University in Chicago (USA) Peter Penzesh.

During the study, it turned out that in autistic children, the proportion of the CNTNAP2 protein, one of the main “inhibitors” of the activity of the nervous system, was noticeably lower. As geneticists have found out, brain tissue begins to actively produce this substance during prolonged episodes of abnormally high neuronal activity. Its molecules penetrate into neighboring nerve cells and inhibit their work, which protects the brain from overexcitation and prevents the development of an epileptic seizure.

However, this does not happen in the brains of autists, since there are mutations in their genome that reduce the activity of the CNTNAP2 protein or prevent genes from producing it. This DNA feature of autistic children, scientists believe, may explain why so many carriers of autism spectrum disorders suffer from epilepsy.

According to Penzesh and his colleagues, in the near future they will test in mice whether it is possible to suppress some of the symptoms of autism and epilepsy using injections of an artificial analogue of the CNTNAP2 protein. Successful completion of these experiments, scientists hope, will provide a chance for normal development for many children with epilepsy and autism spectrum disorders.