An unknown genetic mutation that blocks the sensation of pain has been discovered

An unknown genetic mutation has been discovered that blocks the sensation of pain

A hitherto unknown genetic mutation discovered in a Scottish pensioner could lead to the development of a new generation of painkillers and anxiety relievers. The woman felt no pain or fear throughout her life, but did not realize it.

Jo Cameron carries previously unknown genetic mutations thatorym owes an unusual ability: she does not feel bolu or feels it to a very limited extent. In addition, she has a reduced level of anxiety, and the wounds she suffered heal very quickly. Interestingly, the woman did not realize her „superpowers”, She thought it was normal.

Although the idea of life without bolu may seem attractive, yet bol is an essential. Without it, we wouldn’t know when we sprained an ankle or cut a skoman. Lack of this knowledge mohead could lead to a worsening of the injury or the entry of an infection, which could potentially be life-threatening.

Cameron lives in Scotland and is now 71 years old. Her astonishing resistance to bol doctors only noticed five years ago, during surgery. They were the ones who referred her to a specialistow from genetic analysis from University College London and the University of Oxford.

Cameron’s genetic test results were published in the pages of the journal „British Journal of Anesthesia”.

At the age of 65, the woman zwrociated to doctors for help with hip problems. This turned out to be severe degeneration of the hip joint, and the fact that she did not feel a strong bolu led doctors to wonder. Its reduced sensitivity to bol was diagnosed by anesthesiologist Dr. Devjit Srivastava.

– Now, looking back, I realize that I actually never needed the means ofoIn counterbol situations, but I didn’t ask why. You are who you are, dopoki someone doesn’t notice it, you don’t question it. I was just a happy soul whoora didn’t realize there was something different about me,” said Cameron.

Cameron admitted that in the past she had at least occasionally burned her hand while cooking, but did not notice it, dopoki has not felt the stench of burning flesh. During visits to the dentist, she never needed an agentoin anesthetic. Even during labor, she did not feel any special bolu. – It was really enjoyable – stated.

Analyses of her DNA performed by scientistsow from University College London revealed two previously unknown genetic mutations. – We discovered that this woman has a particularolny genotype that reduces the activity of the gene thatory has already been considered as a possible target in therapies for the treatment of bolu and anxiety – said Dr. James Cox. – Now that we are discovering how this newly identified gene works, we hope to make further progress in the development of new anti-bolowymi – added.

One of these mutations is a microdeletion in a pseudogene, ktowhich up to now in the literature has only received krolittle mention. Now scientists have looked at it closely, described it and named it FAAH-OUT. The other is a mutation in a neighboring gene, whichory controls the enzyme FAAH – it encodes an amide hydrolaseow acidoin fatty.

Further research conducted by wspołemployeeow from the University of Calgary in Canada revealed elevated levels of the neurotransmitteroIn her blood, ktore normally degraded by FAAH.

The FAAH gene is well known to specialists in the field of bolu. It is involved in endocannabinoid signaling, central to the sensation of bolu. The gene now known as FAAH-OUT was previously thought to be a non-functional gene – the so-called “junk gene. „junk gene”.

Studies on rodents have shown that these, ktore were deprived of the FAAH gene, they had a reduced ability to feel bolu, faster wound healing and milder anxiety.

Scientists find genetic mutation that makes woman feel no pain

— Guardian Science (@guardianscience) March 28, 2019

Cameron was observed to have similar characteristics. The woman does not feel bolu, and the injury tends to heal very quickly. She is an optimist whoora received the lowest score on a test assessing anxiety, she has never felt depressed and doesn’t panic even in dangerous situations.

But gene mutations have some side effects. The woman has gaps in her memory. Often forgets where she leaves objects. He also forgets the wordow during a conversation. Researchers indicate that it is associated with enhanced endocannabinoid signaling.

Scientists suspect that there may be more waspsob carrying such mutations. Given that the woman was unaware of her condition until age 65, they may be right.

– People with rare insensitivity to bol can be valuable for medical research. They can help usoc learn how their genetic mutations affect the sensation of bolu. We encourage anyone who does not feel bolu, to report and screen,” said Dr. Cox.

– We hope that in time, our findings may contribute to the development of effective therapies for the treatment of bolu post-surgery, chronic, PTSD, anxietyoin and wound healing, perhaps involving gene therapy techniques, Dr. Cox added.

– The findings point to a possible new anti-bolowy, whichory could potentially offer postoperative relief from bolu, as well as speed up wound healing, but it remains to be seen whether new treatments can be developed based on our findings – admitted Dr. Srivastava.

Cameron seems pleased to be able to contribute to the advancement of science. – I would be thrilled if any research of my own genetics could helpoc other sufferers. A few years ago, I had no idea that there was something so unusual about how little bolu I feel – I just thought it was normal. Now it fascinates me as much as anyone else,” commented the Scottish woman.