Jo Cameron, 74, has experienced broken bones, severe joint degeneration, intense surgery, childbirth, car accidents and burns — but she’s never felt pain, anxiety or fear.
In 2013, Cameron was diagnosed with congenital analgesia after the mother of two repeatedly shocked doctors with her incredibly high pain tolerance.
After six years of tests, doctors discovered a mutation in the Fatty Acid Amide Hydrolase (FAAH) gene — which plays a role in the parts of the central nervous system known for its involvement in pain, mood and memory — and another gene that they dubbed “FAAH-OUT.”
The gene was previously considered a “junk” gene — regions of the genome or non-coding genes that don’t create proteins — but has been found to be more important than previously considered.
Cameron is one of just two people on Earth known to carry the gene.
“I was aware that I was a happy-go-lucky person, but I didn’t realize I was different. I thought it was just me,” Cameron shared. “I didn’t know anything strange was going on until I was 65.”
The combination of genes and genetic mutations was found to be the cause of her seemingly superhuman qualities.
Experts continued to study the genes and mutations that contribute to Cameron’s low anxiety, fear and pain.
The new research, published in Brain, focused on how the FAAH-OUT gene works on a molecular level in an attempt to discover how the mutation “turns down” FAAH gene expression and impacts other molecular pathways linked to wound healing and mood.
The study concluded that FAAH-OUT regulates the expression of FAAH, which when significantly turned down as a result of the mutation, significantly reduces protein levels.
While Cameron’s gene switches off FAAH, the researchers identified a further 797 genes that were turned up and 348 that were turned down.
This included alterations to the WNT signaling pathway that is associated with wound healing, with increased activity in the WNT16 gene that has been previously linked to bone regeneration.
The BDNF gene, which has previously been linked to mood regulation, and the ACKR3 gene, which helps to regulate opioid levels, were also altered by the FAAH-OUT gene.
“The FAAH-OUT gene is just one small corner of a vast continent, which this study has begun to map. As well as the molecular basis for painlessness, these explorations have identified molecular pathways affecting wound healing and mood, all influenced by the FAAH-OUT mutation,” senior author Dr. Andrei Okorokov said in a press release.
Experts hope that the recent findings will lead to better drugs and new research in these areas.
“The initial discovery of the genetic root of Jo Cameron’s unique phenotype was a eureka moment and hugely exciting. But these current findings are where things really start to get interesting,” senior author professor James Cox said in the release.
“By understanding precisely what is happening at a molecular level, we can start to understand the biology involved,” he explained. “That opens up possibilities for drug discovery that could one day have far-reaching positive impacts for patients.”
Cameron’s incredibly rare genes impact what she feels physical, but also what she feels emotionally, and seems to have run in the family.
“My father was the same, he was a jolly man who never seemed to get stressed about anything. He just bounced back,” she recounted. “I just thought I was like him — I’d got a kind of role model in my mind so I never felt different.
“I have been annoying people by being happy and forgetful all my life — I’ve got an excuse now.”