Thursday, November 14, 2013

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

2 comments:

  1. I thought that the article you discussed was extremely interesting. At first thought, I think that it would be cool to have a genetic mutation which causes you to feel no pain. It would make you feel like a super-human and almost invincible. However, I soon came to realize that having this genetic mutation will do a person more harm than good and will be more like a curse. For instance, you wouldn’t realize if you have sustained serious injuries and recovery time would be longer because you cannot feel the pain associated with injuries. I do agree with you that this SCN11A gene mutation could be useful in helping pharmaceutical companies create potent painkilling medicines. Therefore, these medications could provide relief for many people who are suffering from severe injuries or diseases that they have become afflicted with.

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  2. Wow, I am astonished in multiple ways. First off, like Joseph commented, I thought that having this gene mutation that caused one to feel no pain would be awesome: but then again, we feel pain for a reason. That reason is to know when something in the body is not right.

    I also found it incredible that a single gene mutation in the human genome can cause one to not feel pain. I am always blown away when you hear of things so drastic occurring because of a single gene mutation. In one of my blogs, it stated that a single gene mutation can make it extremely more likely for breast cancer to develop. We often think that because our genome is so large and has so many base pairs that a single replacement would do very little. But when only approximately 2% of our entire genome codes for proteins while the rest codes for "nothing", a single base pair can have a dramatic effect, as seen in this woman who can feel no pain. Very interesting!

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