A life without pain through gene change

Scientists from Jena discover mutated gene

09/17/2013

A life without pain - what patients with chronic pain can hardly imagine is a reality for a four-year-old girl. Now scientists of the University of Jena have discovered in a study, a mutated gene, which is responsible for the fact that the child feels no pain. A paradoxical phenomenon, because normally „The sensation of pain protects the body from serious injury“, the researchers in a recent journal article in the magazine „Nature Genetics“.

Four-year-old girl feels no pain
Do not feel pain: What many people would want is normal for a four-year-old, because in case of injury, the child remains completely painless. Researchers at the University of Jena have now gone in search of an explanation for this paradoxical phenomenon and found in the context of a study of the girl on an altered gene. This triggers a malfunction of cells in the spinal cord, so that pain signals can not even arrive in the brain.

Mutated gene „SCN11A“ leads to paralysis of nerve cells in the spinal cord
According to lead the mutated gene with the name „SCN11A“ to a hyperfunction of a sodium channel in the envelope of nerve cells, said the first author of the study, Enrico Leipold of the University of Jena in the article. As a result, the nerve cell is overloaded, „can no longer regenerate and is paralyzed in its function“, the researcher continues. On the perception of pain, this hyperfunction function in that the affected cells are located in the spinal cord, which is part of the central nervous system and directs the pain signals directly to the brain.

Also mice thanks to mutated gene painless
After the researchers had discovered the gene change in four-year-olds, in a next step corresponding genetic changes were performed in mice and then subsequently examined in the laboratory. Here confirmed the results so far: „In experiments, we were able to show exactly how the function of the nerve cell changes as a result of this mutation ", „because of the transmitted mutation, the mice showed reduced sensitivity to pain and self-inflicted tissue lesions“, the researchers continue in their journal article.

Pain insensibility inheritable?
This result was a surprise for the scientists, says Leipold, „because the overfunction of the channel would actually have expected the exact opposite. Similar diseases that underlie such hyperactivity invariably lead to increased pain perception in patients. " „SCN11A“ seems to be an exception here - which, however, the researchers could prove in a Swedish boy. Here, too, the mutation had occurred spontaneously and was absent from the parents of the children, but those affected would, according to the researchers, be able to pass on the change.

Results also relevant for pain therapy
In view of these findings, the scientists now hope for the development of drugs for the targeted deactivation of the sodium channel. In addition to the discovery have other positive effects, because "what we can learn here, can be used in part to other diseases," said Leipold. In addition, the study could also be relevant for pain therapy, but in the opinion Leipolds an application only „for very tough cases. "(nr)