Monday, September 16, 2013

Mutagenic: Mutated gene exempt from pain - Times Online

curse rather than a blessing: Some people do not feel pain. The body takes damage, the brain knows nothing of it. A dangerous mutation may be to blame.

class=”articlemeta-date”> 16 September 2013

What is longed for some anguished patient, is a big risk for those affected: you feel no pain when they hurt themselves. In some of these cases, researchers have now identified a mutated gene as the cause. A modified form of the gene leads to an overactive SCN11A a sodium channel in the membrane of neurons, the lead author of the study, says Enrico Leipold of the University of Jena. Ion currents in sodium channels play an important role to pass electrical signals along the projections of neurons. By a mutated variant of SCN11A “the nerve cell is overloaded, can not regenerate and is paralyzed in their function.” The affected cells are located in the spinal cord and therefore to the switching point from where the body transmits pain signals to the brain.

then four-year-old girl that scientists once brought on the track of SCN11A. The child was completely painless. As Leipold and his team discovered the mutation in the cells of the girl, they provided mice with the genetic modification in the laboratory and examined it more closely. The international team of researchers has now published their findings in Nature Genetics magazine . Head of the study was the Jena geneticist Ingo Kurth.


The finding was surprising. Because the transfer function of the sodium channel would actually be expected the exact opposite, says Leipold. “Similar diseases in patients invariably lead to an increased perception of pain.” But here it’s different. The search for further victims led scientists to a Swedish boy, the same mutation in his cells had as well as the girl. The genetic change was occurred spontaneously and could not be detected in the parents of the children. However, sufferers would pass the mutation on to their 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. “That will come only when application of very hard cases into question.”

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