Experts from University College London have discovered a rare genetic mutation that has allowed a woman to live her life almost pain-free and never feeling anxious or afraid.
Scientists have found that mutations in the Faah-Out gene work at the molecular level enabling Jo Cameron, from Scotland, to not experience pain.
The same biological mechanisms are also believed to allow wounds to heal more rapidly.
The researchers said the findings, published in the journal Brain, open up doors for new drugs research in relation to pain management and wound healing.
“The Faah-Out gene encodes a long non-coding RNA, a type of gene that has often been overlooked in the past,” James Cox, of UCL Medicine and a senior author of the study, told The National.
“By understanding how this gene works, it could help us to understand how other similar genes may contribute to other disorders.
“These genes are under-explored and they may be the key to a wide range of common diseases.”
Ms Cameron, 75, who lives near Loch Ness in the Highlands, made headlines in 2019 when UCL scientists announced that mutations in the previously unknown Faah-Out gene made her feel no pain, stress or fear.
She found out about the condition when she was 65 and sought treatment for a problem with her hip, which turned out to involve severe joint degeneration, although she had experienced no pain.
After having surgery on her hand at Raigmore Hospital in Inverness months later, she reported no pain afterwards, although the treatment is normally very painful.
Building on that work, the researchers have found that Faah-Out mutation “turns down” the expression of the Faah gene, which is associated pain, mood and memory.
The team discovered enzyme activity levels in the Faah gene to be significantly reduced in Ms Cameron’s case.
They 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 and fear, and her lack of pain, the researchers said.
“These findings are the culmination of 10 years of research and have shown us the importance of non-coding RNA in biological processes,” Dr Andrei Okorokov, also of UCL Medicine, a senior author of the study, told The National.
“We now have a molecular map on what happens after the genetic mutations.
“This will lead us to more quickly understand which genes we could target for treatment in other areas, not just pain, depression, anxiety and wound-healing.”
