Pain free thanks to mutated gene

Some people feel no pain

16/09/2013

In some people, a certain change in a gene provides freedom from pain. This is not always a blessing for those affected because it lacks an important body alarm system and is a serious risk. Researchers at the University of Jena have now been able to find out the cause of this phenomenon. The author of the study, Enrico Leipold, explains that within the gene „SCN11A“ comes to an overfunction of a sodium channel inside and this turns off the pain. In their function, ion currents of the sodium channels conduct electrical signals from nerve cells.

A mutated variant of SCN11A leads to an overload of the nerve cell. This can no longer regenerate and therefore can no longer perform its task. The cells in question sit directly on the spinal cord, virtually the point of contact of the body, from where all signals are forwarded to the brain. Also the pain signals.

On the trail of this genetic defect, the researchers introduced a four-year-old girl who was completely pain-free. In their laboratory, Leipold and his team provided mice with this genetic change and examined them more closely. The results were published in the magazine "Nature Genetics".

The researchers were surprised at the time, because an overfunction of the sodium channel actually leads to the exact opposite. "Similar illnesses invariably lead to an increased perception of pain in patients, says Leipold, but here the effect is the other way around." In search of further persons affected, the scientists came across a Swedish boy who had the same genetic change children are not discovered, but the children can pass on the mutation to their children.

With these new findings, the researchers hope to develop drugs that specifically switch off the sodium channel. "What we can learn here is partly applicable to other diseases." But that will only be considered as an application for very severe cases“ says Leipold. (Fr)

Picture: Sigrid Rossmann