The Case of the Girl Who Couldn’t Feel Pain

        A recent article unveils that reduced pain perception might actually be the result of a single gene mutation. Typically, such drastic medical complications are the result of the interactions and mutations of multiple genes. In this new study, an anonymous woman, “Index Subject 1,” was studied by an entire team of scientists because of her unusual condition: she has the inability to feel pain. Her condition is a dangerous one; she has suffered severe injuries, all of which healed slowly because she was unable to detect that she was hurt. 
Researchers targeted the woman’s mutation not only by studying the genomes of both of the woman’s parents, but also by comparing her family’s genes to several human databases. These databases include the genes of 1,092 people from 14 different populations. In each case, the researchers located a single gene mutation that was displayed in Index Subject 1, but not in a
ny other genome that they studied; the gene called SCN11A was affected by the mutation and caused the woman to not feel pain. The SCN11A gene produces a protein that controls the amount of sodium that passes through cells in the human body; nerves utilize many of these sodium channels in order to indicate to the rest of the body a message of pain. In the case of Index Subject 1, the mutation specifically affected a sodium channel that is abundant in nociceptors, the particular nerves that sense pain. 
After researchers identified that Index Subject 1 has a mutation affecting the SCN11A gene, they then studied the genetic composition of 58 other individuals who had reduced pain perception. Another individual, a man they named Index Subject 2, was identified as having the same mutation as Index Subject 1. Researchers went even further to test whether the mutation affecting the SCN11A gene really did cause a dramatic reduction in pain perception. Scientists found that of the 101 lab mice that were given the SCN11A mutation, 11 gave themselves self-inflicted wounds. Mutated mice were able to withstand high temperatures, and they did not protect a swollen paw as a normal mouse would. 
       I chose to post this article not only because it reports a super-rare genetic mutation, but also because it suggests a medical revolution. The studied mutation could be used as a model for pharmaceutical companies to create future painkillers. The impact that this genetic mutation could have on the medical and pharmaceutical communities will come at a relief for individuals who suffer from chronic pain. I believe that this study will have a significant impact on the way that individuals are treated for their pain. Rather than taking multiple pain medications to treat pain, it is possible to create one medication that affects the SCN11A gene, thus diminishing the individual’s pain. 

Reduce pain through meditation!
http://www.youtube.com/watch?v=tnABHy6tjL8

Girl who feels no pain could inspire new painkillers

Diagram of how pain is transferred to the brain

Demonstration of Congenital Analgesia 

Researchers have identified a new gene mutation through a girl who does not feel physical pain and may be able to use this information in developing new painkillers that will block out pain signals. When someone is diagnosed with not being able to feel physical pain, they are classified with having congenital analgesia. Often people who have this injure themselves very badly through being unaware. Researchers compared the gene sequence of the girl with the disorder against those of her parents. Once analyzed, they identified the gene mutation called SCN11A. This gene controls the channels on pain-sensing neurons where sodium ion travels through to create nerve impulses sent to the brain. Once the body contains a mutated version of this gene, the buildup of charge needed for the neurons to transmit an electrical impulse to the brain. To verify their results, researchers inserted a mutated version of SCN11A into mice and tested their ability to perceive pain and analyzed mice with the normal SCN11A and their reaction to pain. Their findings showed 11 percent of the mice with the mutated genes developed injuries similar to the people with congenital analgesia and the mice with the normal SCN11A reacted to pain instantly. Although researchers were able to test this mutated gene in mice, humans develop a degree of pain insensitivity more prominently than mice. Now the teams next goal is to try and develop drugs that can block SCN11A, but not other sodium channels. Geoffrey Woods, of the University of Cambridge, says “There are three ion channels called SCN9A, 10A and 11A, on pain-sensing neurons. People experience no pain when either of the first two don't work, and agonising pain when they're overactive. With this new gene, it's the opposite: when it's overactive, they feel no pain." This mutated gene is the start for advancements pharmaceuticals and could potentially become the next best analgesic.

(Article) http://www.newscientist.com/article/dn24196-girl-who-feels-no-pain-could-inspire-new-painkillers.html#.UlMcqFCTggU

http://www.medicaldaily.com/girl-who-cant-feel-pain-motivates-scientists-invent-new-painkillers-how-her-gene-mutation-could-hold