The Endocannabinoid Mutant of Scotland

We’ve all heard of the Loch Ness monster. But have you heard about the Endocannabinoid Mutant of Scotland?


 

At 8 years old, Jo Cameron broke her arm. She didn’t tell anybody about it for days, because she hadn’t felt it happen and only noticed when it started setting at a strange angle.

When she was older and gave birth to her children, she described the experience as a series of strange sensations, like a ‘tickle’, and the dentist stretching open your mouth. Once, when her car was cut off by a truck and overturned into a ditch, she felt no panic or pain. Instead she climbed straight out and went to comfort the shaking driver.

But only when she had a series of operations at 65 did Jo, a woman from Inverness in Scotland, realise anything about her was different. Three or four years prior her walk had become lopsided, but when she went to get it checked out the doctors kept sending her away because she was not in any pain. When they finally performed an x-ray, it revealed the joint in her hip had massively deteriorated and she needed a replacement - when all the while she hadn’t felt anything happening.

Doctors were baffled, and continued to be even more so when she was comfortable on only 2 paracetamols the day after the operation. While in hospital, they noticed the thumbs on both Jo’s hands had become deformed due to severe osteoarthritis, and she was immediately booked in for a double hand surgery. When, post-op, she consistently rated her pain levels as 0/10 after what should have been an excruciating procedure, her doctor decided to get her DNA examined. 

 

Scientists found two key mutations in Jo’s DNA to explain her lifelong affliction - or, more accurately, complete lack thereof. The first is a dampening of a gene called FAAH, which produces an enzyme that breaks down anandamide, a bodily chemical referred to as ‘the bliss molecule’ that directly relates to pain, mood and memory.

Anandamide is a natural cannabinoid, working in the same way as the ones we get from cannabis by feeding our endocannabinoid system (ECS) to maintain a state of biological balance. It also works in the same way as cannabis in that the less it is broken down, the stronger its pain relieving and mood enhancing properties are felt. Jo’s mutation, which does exactly that by dampening the FAAH gene’s activity, and thus decreasing the breakdown of anandamide, is actually not uncommon to the general population.

The second mutation is where it gets far out. No, really. What ultimately amplified the effects of the first mutation was a missing chunk of her DNA, a previously unidentified gene that has been dubbed FAAH-OUT. Researchers believe that this gene works as a kind of volume control for the FAAH gene - remove it, and FAAH is silenced to the point that anandamide builds up in the system and its properties are felt in the extreme. Jo had twice as much in her body as the average person.

This explained a lot. Not only had she always been devoid of physical pain, but she had also always been (to the annoyance of many, she says) perennially cheerful and devoid of stress. Scoring a 0/21 on a test for anxiety disorders, she says she is rarely riled up by anything - not even getting driven off the road, and having her car overturned by a truck. When someone close to her has died, she says she has felt sad but never been torn apart by the loss.

Sounds quite nice, right? Well, if you ask Jo about it she will also always point to the downside. Often she finds herself leaning against the stove, only realising (because she is a vegan) at the point of the unmistakable smell of burning flesh. She is always ironing herself, and her husband has to tell her whenever she is bruised or bleeding. “Pain is there for a reason. It warns you, it gives you alarm bells.”

However, she also hopes that the discovery of her unique mutation will lead to others coming forward to report the same condition. After all, it took 71 years before she was aware there was anything special about her existence, so it stands to reason there might be others who share it. With more people to study, there can be better research into using this discovery to develop better treatment for sufferers of chronic pain. And with anandamide forming part of the ECS, it would likely be a far more natural form of relief.

Another day, another wholly unexpected and extremely encouraging way in which cannabinoids are proving to be revolutionary for health and wellness.

Tagged with: Inspire

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