Reseachers Study Genetic Mutation That Blocks Pain

In the healthcare industry, a great deal of time, energy and money is poured into helping patients manage acute and chronic pain. The struggle to overcome pain can frusturating for both patients and doctors, but at the same time pain in a necessairly mechanisim for self-presevation: it allows us to know our limit, protect ourselves from injury, and know when we have a medical problem that needs attention. However, some people are born with a rare genetic mutation that prevents them from feeling pain. A group of researchers has released a study on such a family in Pakistan in hopes that their rare condition could lead to innovative treatments for pain management.

A 14-year-old boy unable to feel pain became a local celebrity for his street performances, which included walking across hot coals and stabbing his arms with knives. Sadly, he died when he jumped off the roof of a house, demonstrating how necessary it is that children know pain and understand how to avoid activities that cause serious harm. A number of his relatives have also suffered injuries ranging from fractures to mouth injuries from biting their tongues. "Pain is there for a jolly good reason--it stops us damaging ourselves," notes Geoffrey Woods of the Cambridge Institute for Medical Research, UK, who led the study.

The researchers found that all the Pakistani children who shared the pain-free trait had a mutation in a gene called SCN9A, which is strongly expressed in nerve cells. This mutation prevents the brain from receiving signals that the body is injured. But it could also lead to new therapies for pain management--the current options include local anesthetics and opoids, both of which have serious drawbacks. “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 John Wood, a neurobiologist at University College London and co-author of the study. Drug giant Pfizer worked in conjunction with the researchers on the study.

- read this article [1] from Nature for more

- see this Guardian article [2]