No pain, no gain?
Discovery of pain-killing genetic mutation could lead to new drugs by LYNDSAY MOSS
A RARE genetic defect that takes away pain could lead to the development of new and safer analgesic drugs, say scientists.
A British-led team of researchers have identified the pain-killing gene mutation after studying three related families living in Pakistan.
The families had an unusual inherited disorder, meaning that they are unable to experience any kind of pain.
However, they are still able to feel other sensations, such as touch, the difference between warm and cold, and pressure.
The researchers, writing in the scientific journal Nature, said they hoped their findings could lead to drugs being created to block the same biological pathway affected by the gene mutation in the Pakistani families.
According to yesterday's report, the first person identified with the mutation was a ten-year-old Pakistani street performer. Because he felt no pain, he was able to place knives through his arms and walk on burning coals, but the boy died on his 14th birthday after jumping off the roof of a house.
The researchers said this demonstrated the importance of pain in deterring people from damaging themselves.
The scientists went on to study six individuals with the same mutation from three related families, all of them originating from the northern Pakistan area.
None of the six had experienced any pain at any time in their lives, the researchers reported.
As a result, all had suffered a variety of injuries, including wounds to their lips and tongues caused by biting themselves when young.
Two of the six had lost one-third of their tongues because they were unable to feel pain.
Most of the individuals had suffered fractures or bone infections at some point in their lives, which were only identified later on because they started limping or stopped using a limb.
Other injuries included scalding by boiling liquids or steam, and burns caused by sitting on radiators.
The scientists found that the loss of pain was caused by a mutation in the gene known as SCN9A, which plays a role in exciting sensory nerves.
Dr John Wood, a pain expert from UCL, said the discovery provided an "exciting new target" for painkilling drugs.
"Potentially, this is as important as the identification of the morphine receptors," he said.
"It is fascinating that this same gene, when mutated to encode a hyperactive channel, has also been found to contribute to on-going pain in some heritable human disorders."
In the past, medical journals have recorded only a handful of cases of people who appeared to have a lifelong inability to feel pain.
The first report of such a case is thought to be in 1932. This involved a patient who made a living with a human pincushion act, pushing sharp objects into their body for other people's enjoyment.
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