About paradoxical function: gene mutation blocks the sensation of pain - Spiegel Online

Jena – Chronically ill want it, it is a curse for those affected: Some people feel no pain at injury. Researchers from Jena are now encountered in search of the trigger on a specific gene mutation. The mutation of the gene leads to an overactive SCN11A a sodium channel in the membrane of neurons, says the lead author of the study, Enrico Leipold of the University of Jena. “As a result, the nerve cell is overloaded, can not regenerate and is paralyzed in their function.” The affected cells are located in the spinal cord and thus at the switching station for the transmission of pain signals to the brain.

starting point for the scientists was the case of a then four-year-old girl who was completely pain-free, according to Leipold. With him, the researchers came to this mutation. Thereafter, mice were genetically modified and tested according to the laboratory. “In experiments, we were able to show exactly how the function of the nerve cell by this mutation changes,” said Leipold. He has published the results together with colleagues from Germany and abroad in the journal “Nature Genetics”. Head of the study was the Jena geneticist Ingo Kurth.

Key findings for pain research

The finding was surprising. Because the transfer function of the channel would actually be expected the exact opposite, Leipold said. “Similar diseases have such overactive underlying invariably lead to increased patient perception of pain.” But in the case of this mutation is different. The search for other stakeholders has led scientists to a Swedish boy, in which the mutation was also found. The genetic change was occurred spontaneously and could not be detected in the parents of the children. But they would inherit the affected children.

The researchers now hope that with the findings of drugs can be developed that can turn this sodium channel specifically. “What can we learn here can be applied to other diseases in part,” said Leipold. For the treatment of pain, the findings could also be interesting. Leipold: “That will come only when application of very hard cases in question.”

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