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Doctors have identified a new mutation in a woman who was barely able to feel pain or stress after a surgeon baffled by her recovery from an operation referred to her for genetic testing.
Jo Cameron, 71, has a mutation in a previously unknown gene that, according to scientists, must play a major role in the signaling of pain, mood and memory. The discovery has reinforced the hope of new treatments for chronic pain that affects millions of people around the world.
Cameron, a former teacher who lives in Inverness, has had limb fractures, cuts and burns, childbirth and numerous surgeries with little or no need for pain relief. She sometimes relies on the Aga and knows nothing about it because of the pain, but the smell. "I'm vegan, so the smell is pretty obvious," she says. "There is no other burning flesh in the house."
But Cameron does not just stand out because of his inability to feel the pain: she does not panic either. When a van driver drove her off the road two years ago, she got out of her car, which was on the roof in a ditch, and went to comfort the young quivering driver who was there. cut. She only noticed her blues later. She is constantly optimistic and in stress and depression tests, she scored zero.
"I knew I was happy, but I did not realize that I was different," she says. "I thought it was just me, I did not know that something strange happened before my 65th birthday."
The moment of realization came when Cameron had X-rays for a bad hip. From time to time, her hip gave way, making her walk crookedly. For three or four years, her GP and then the hospital, sent her back because she was not suffering. When it was finally scanned, X-rays revealed a massive deterioration of the joint. "I did not have a heartache. They could not believe it. "
Cameron had duly replaced his hip and fitted two paracetamol the next day. But while she was in the hospital, the doctors noticed that her osteoarthritis was deforming her thumbs. They immediately booked her for a double-handed operation, a procedure described as "atrocious" by a surgeon. Again, Cameron felt almost no pain after the operation. Devjit Srivastava, a consultant who oversaw her care at Raigmore Hospital in Inverness, was so stunned that he referred her to pain specialists at UCL in London. .
In a case study published Thursday in the British Journal of Anesthesia, the UCL team describes how she probed Cameron's DNA to find out what makes it so unusual. They found two notable mutations. Together, they suppress pain and anxiety, while stimulating happiness and, apparently, forgetting and healing of wounds.
The first mutation observed by scientists is common in the general population. It slows down the activity of a gene called FAAH. The gene produces an enzyme that breaks down the anandamide, a chemical in the body that plays a central role in the sensation of pain, mood and memory. Anandamide acts in a similar way to the active ingredients of cannabis. The less it breaks down, the more its analgesic and other effects are felt.
The second mutation was a piece of missing DNA that had mystified scientists in the beginning. Further analysis showed that the "deletion" cut the front of a nearby, previously unknown gene that scientists have named FAAH-OUT. The researchers believe that this new gene works as a volume control of the FAAH gene. Disable it with a mutation like Cameron's and FAAH is silent. The result is that anandamide, a natural cannabinoid, accumulates in the system. Cameron has twice as much anandamide as those in the general population
When the researchers explained the changes to Cameron, much of his past made more sense. She broke her arm at the age of eight and did not tell anyone for days, until the bone started to reset in a fun way. She could eat scotch cup peppers and only feel a "pleasant glow" in her mouth. That she keeps going and that her multiple cuts and burns heal so quickly.
"I was very amused when I discovered it," Cameron said. "And then they told me about these other things, happiness and forgetting. I always forget things; I've always done it. It's good in many ways, but not in others. I do not get the alarm system everyone has.
Cameron's mother felt the pain normally, just like her daughter. But his son, the second and most important mutation, suffers from pain. He never takes painkillers and often burns his mouth with hot drinks and food. Scientists suspect Cameron's father of passing the mutation to her.
James Cox, a researcher in the study, said that in extreme cases, mutations can cause people to not feel pain. "This patient does not have a complete loss of pain sensitivity, but we see it well. When they are young, they usually bite parts of the tongue and fingers because they did not learn that it was dangerous.
Cox said about Cameron: "We can learn a lot from her. Once we understand how the new gene works, we can think of gene therapies that mimic the effects we see in it. Millions of people are suffering and we urgently need new painkillers. Patients like this can give us real information about the pain system. "
Cameron hopes that talking about his condition could stimulate scientific progress. "There may be more people like me who do not know what makes them different," she says. "If they participate in the experiments, it can help people get rid of artificial painkillers and adopt more natural ways to relieve pain."
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