Scientists at Cambridge University began studying the child to understand why he was unable to feel pain, but was otherwise completely healthy. He died shortly before his 14th birthday, from injuries sustained after jumping off a roof while playing with friends.
The scientists broadened their investigation to three families related to the child and found that none had experienced pain at any time in their lives. All six family members had bruises and cuts and most had fractured bones. Two were missing the front third of their tongues after biting themselves in childhood. The way in which the young street performer died also highlighted the importance of pain as a built-in defence mechanism to stop people damaging themselves.Detailed neurological tests on the families, all of whom originated in northern Pakistan, revealed they responded normally to touch, temperature, tickling and pressure and had no signs of nerve disease. An explanation for the rare condition only became apparent when a team of scientists led by Geoff Woods, a medical geneticist at Cambridge, conducted extensive genetic tests which revealed they all carried an extremely unusual mutation in a single gene.
The defect, in a gene called SCN9A, disrupts the flow of sodium ions in specific nerve fibres that sense damage. The results of the research are published today in the journal Nature. … “This gives us an excellent target to develop painkillers, because we know that if we can block this sodium channel, you will lose the perception of pain, but it will not affect you in any other way,” said Dr Wood. “Potentially this is as important as the identification of the morphine receptors. – guarduk
What we really need is the conscious ability to completely turn pain on and off for as long as is needed.