From biologists to Buddhists, most would agree that pain is an inseparable, if not necessary, part of life. But that's not the case for one pensioner in Scotland; a rare genetic mutation means she experiences little to no pain. Although her life has seen countless bruises, broken bones, and burns, this unusual gene tweak also helps her to feel shiningly optimistic and worry-free.
A study into the previously unidentified gene mutation that gives this woman her “superpower” has just been published in the British Journal of Anaesthesia. Through this research, scientists at University College London (UCL) and the University of Oxford hope to find new treatments for chronic pain and anxiety disorders.
"The implications for these findings are immense," remarked Dr Devjit Srivastava, a consultant in anesthesia and pain medicine at a hospital in northern Scotland who first treated the woman, said in a statement.
Jo Cameron, 71, from Scotland, only became aware of her condition in her mid-sixties. She sought treatment for two ailments, one affecting her hip and the other her hand, both of which are usually notoriously painful. To her doctors’ surprise, however, she didn’t report much discomfort and wasn’t begging them for any painkillers. It was also noticed that her injuries tended to heal unusually quickly.
"I had no idea until a few years ago that there was anything that unusual about how little pain I feel – I just thought it was normal," Ms Cameron said.
Dr Srivastava spotted the pain insensitivity and referred her to a team of researchers interested in pain and genetics at UCL and Oxford.
“She reported numerous burns and cuts without pain, often smelling her burning flesh before noticing any injury, and these wounds healed quickly with little or no residual scar,” the study authors write. “She reported eating Scotch bonnet chili peppers without any discomfort, but a short-lasting ‘pleasant glow’ in her mouth.”
To figure out what was going on, geneticists took a close look at her DNA and found two notable features. They discovered a mutation in a region called FAAH-OUT, previously assumed to be junk DNA, as well as a mutation in the neighboring gene that controls an enzyme known as FAAH.
FAAH has long been associated with pain sensation, mood, and memory. It works by breaking down a neurotransmitter called anandamide, sometimes called the "bliss molecule". The genetic mutations appeared to result in less FAAH being produced, therefore, more of the anandamide is allowed to work its feel-good magic.
As previous studies have shown, mice without the FAAG gene have been shown to have reduced pain sensation, accelerated wound healing, and reduced anxiety. This is not too dissimilar from Jo. She describes herself as an optimist and was given an extremely low score on a common anxiety scale. Even during intensely scary life experiences, such as a car crash she was involved in, she reported very little anxiety or fear.
"We hope that with time, our findings might contribute to clinical research for post-operative pain and anxiety, and potentially chronic pain, PTSD, and wound healing, perhaps involving gene therapy techniques," said Dr James Cox of UCL Medicine.
"I would be elated if any research into my own genetics could help other people who are suffering," Jo said.