London scientists have discovered the rare genetic makeup of a woman who cannot feel pain.
Jo Cameron, 75, has a rare genetic mutation that allows her to live virtually pain-free and never feel anxious or afraid. She has never suffered a headache and experienced no discomfort during childbirth.
Ms Cameron was referred to pain geneticists at University College London (UCL) in 2013 after her doctor noticed that she experienced no pain after major surgeries on her hip and hand, which usually causes significant pain.
After six years of searching, they identified a new gene that they named FAAH-OUT, which contained a rare genetic mutation. In combination with another, more common mutation in FAAH, it was found to be the cause of Ms Cameron’s unique characteristics.
But researchers were not able to ascertain how the mutation allowed her to evade pain completely.
Now, scientists have discovered that the mutation effectively “turns down” the gene that regulates her pain, mood and memory.
Professor James Cox (UCL Medicine), a senior author of the study, said: “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.
“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.”
Ms Cameron, who lives near Loch Ness in the Highlands, has previously described going days without realising her arm was broken and claims that she only notices her skin is burning when she smells scorching flesh.
The UCL team also analysed tissue samples to study the effects of FAAH gene mutations on other molecular pathways and found increased activity in another gene, known as WNT16, that has previously been linked to bone generation.
The researchers also found alterations in two other genes, BDNF and ACKR3, which they believe may contribute to Ms Cameron’s low anxiety, fear and painlessness.
It is hoped that the findings, published in the journal Brain, could open up doors for new drugs research in relation to pain management and wound healing.
Dr Andrei Okorokov, also of UCL Medicine, a senior author of the study, said: “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.
“As scientists it is our duty to explore and I think these findings will have important implications for areas of research such as wound healing, depression and more.”
