She's One of Only 2 People Who Can't Feel Pain or Fear. She Might Change the World.
Researchers are studying a woman with a rare mutation of a gene that allows her to feel virtually no pain.
There are only two known people in the world with this mutation.
Understanding the FAAH-OUT gene variant could lead to new drug discoveries.
Jo Cameron of Scotland spent decades without knowing exactly why she was the way she was. All her life, she felt virtually no pain and didn’t experience anxiety or fear. She thought it was normal. It wasn’t until doctors realized she didn’t have pain after major hip and hand surgeries during her 60s that the research on her began.
And it hasn’t stopped. Moreover, it led to the 2019 discovery of the FAAH-OUT gene and the mutations that allow Cameron to live as she does. She is one of only two known people in the world to with this pain-blocking mutation.
“I was aware that I was a happy-go-lucky person, but I didn’t realize I was different,” Cameron says, according to Study Finds. “I thought it was just me. I didn’t know anything strange was going on until I was 65.” She’s now 74.
Now, researchers want to figure out how Cameron’s gene mutation could help others. In a study published in Brain, a team from the University College London spells out this mutation, showing its connection to wound healing and mood.
“The FAAH-OUT gene is just one small corner of a vast continent, which this study as begun to map,” Andrei Okorokoy, a senior author on the study from UCL Medicine, says in a news release. “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.”
Finding something new has Okorokoy in search of more. “As scientists it is our duty to explore,” he says, “and I think these findings will have important implications for areas of research such as wound healing, depression, and more.”
Before Cameron’s rare case surfaced, scientists didn’t know what the section of the genome containing FAAH-OUT was for—it was originally written off as functionless “junk” DNA. But the new study shows that it is really part of the endocannabinoid system, a key player in pain, mood, and memory.
The study looked at the functions of the gene at a molecular level, one of the first steps in translating the unique biology to something useful for drug discovery. The in-depth look at Cameron’s DNA—along with the DNA of other patients with varying pain thresholds—helped the team understand a plethora of genes that contribute to Cameron’s specific condition, and showed how they could impact everything from anxiety and fear to pain and healing.
“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,” James Cox, a senior author on the study from UCL Medicine, says in a news release. “By understanding precisely what is happening at a molecular level, we can start to understand the biology involved and that opens up possibilities for drug discovery that could one day have far-reaching positive impacts for patients.”
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