A woman in Scotland has lived an extraordinary life, almost completely free of physical pain, anxiety or fear, and it may be due to a few genetic mutations.
In a new research paper published in British Journal of Anesthesia by a team of doctors from several institutions, including University College London (UCL), a 71-year-old woman is reported to have lived almost all his life with an extreme insensitivity to pain, and having almost no experience of anxiety, fear or depression.
SEE ALSO: THIS ITALIAN FAMILY CAN'T FEEL THE PAIN CAUTION OF A STRONG GENETIC MUTATION
Scientists believe this is the consequence of a mutation in a previously unidentified pair of genes that may be directly linked to human pain response and response. associated connection for fear, anxiety and depression.
"We found this woman to have a specific genotype that reduces the activity of a gene already considered a possible target for pain and anxiety treatments," said Dr. James Cox from UCL and one of the leading researchers for the study. "Now that we uncover how this newly identified gene works, we hope to make further progress with new treatment goals."
Doctors discover her pain insensitivity late in life
It was not until 65 years that this woman learned that her almost completely painless existence was abnormal. She had gone in to see a doctor about a problem with her hip, and the doctors found severe degeneration in the joint, while she had no experience of what should have been serious pain.
"The implications for these finds are huge." ̵1; Dr. Devjit Srivastava, National Health Service
One year later, she underwent surgery for her hand, which, given that our hands are necessarily one of the more nervous parts of our bodies, is usually very painful. Again, no experience with post-surgical pain. She never reported having to take any kind of analgesic after surgery such as dental care.
Dr. Devjit Srivastava, an anesthetic and pain consultant in a NHS hospital in northern Scotland, was the one who diagnosed her extreme pain insensitivity and co-authored the paper describing their results.
She was sent to a pain geneticist at UCL who performed genetic analyzes and identified two mutations that stood out. One was what the researchers called a microdeletion in a pseudogene, only briefly annotated prior to this case and largely ignored. This gene, which was called FAAH-OUT by researchers in their paper and was described in detail for the first time, was also mated with a mutation in a neighboring base that directed the FAAH enzyme.
This second gene had long been known for pain experts for its connection to the endocannabinoid signaling, which is essential for pain sensitivity, as well as memory and mood.
"The implications for these findings are enormous," says dr. Srivastava.
Targeting the Genetic Ink Cartridge for Pain Response  In laboratories, scientists have seen in mice that do not have the FAAH gene experience with impaired pain sensitivity, faster wound healing, decreased anxiety, and increased fear of extinction. When describing her life experience, the woman in the study reports almost identical experiences and behavior.
She reported that she could burn herself on a stove and would only realize that she had burnt by the smell of burnt meat. She tested having the lowest score possible on a common anxiety scale and reported periods of memory lapsing that the researchers bound to improved endocannabinoid signaling.
"We hope our achievements over time can contribute to clinical research for postoperative pain and anxiety," said Dr. Cox, "and potentially chronic pain, PTSD and wound healing, perhaps with gene therapy techniques."
As far as the woman is concerned, she hopes that her experience can help develop new treatments. "I hadn't known a few years ago that there was anything unusual about how little pain I feel," she said. "I just thought it was normal. Learning about it now fascinates me as much as anyone else does."
"I would be elated if any research in my own genetics could help other people suffering, "she added.