Autism affects about 2% of children in the United States, and about 30% of these children have seizures. Recent large-scale genetic studies have revealed that genetic variation of a sodium channel called the potential-dependent sodium channel Nav1.2 is a major cause of autism. Excessive sodium channels in neurons cause seizures. Doctors often treat patients with drugs aimed at closing sodium channels to treat seizures by reducing the flow of sodium through the axons. For many patients, such treatments work, but in some cases (up to 20 or 30%) they do not work. These children have a “lost” variant in Nav1.2, which is expected to reduce sodium channel activity as an “anti-seizure.” Therefore, how a deficiency of the sodium channel Nav1.2 causes seizures is a major mystery in the field that confuses doctors and scientists.

His team, including Yang Yang, an assistant professor of medicinal chemistry and molecular pharmacology at Purdue University, and Jin Liang Chan, a postdoctoral fellow in the paper, tackled the problem.They found that Nav 1.2 was not enough Neuron, Many expressions Potassium channel It is surprisingly decreasing. Nav1.2 deficiency itself does not cause seizures.The problem is that potassium channels Sodium channelDeficiency by shutting down potassium channels too much, overexciting neurons and causing seizures. In such cases, sodium channel treatment clearly does not work. Yang and his team suggest that developing drugs to open potassium channels may help control seizures in these patients. In particular, researchers at the University of California, San Francisco, led by Kevin Bender’s research group, made similar observations independently. Yang and Bender’s treatises were published consecutively in the same issue. Cell report..

“Because we are looking at genetic makeup, doctors can prescribe drugs and gene therapies based on specific genes, or personalized medicine,” says Yang. “Our research points to future research, perhaps the direction of future treatment. We are peacetime warriors and are fighting the disease, humanity’s greatest enemy. Because of these conditions There are children who die in. Our goal is to help them, help their parents and their families .. This kind of basic research is an important part of finding new drugs. “


SOURCE: Purdue University