Rare gene mutation makes 75-year-old British woman feel no pain | UK News

Scientists have discovered how a rare genetic mutation in a British woman allows her to live a life with little to no pain and never experience anxiety or fear.

Experts at University College London (UCL) have discovered how a mutation in the FAAH-OUT gene works at the molecular level to make Jo Cameron feel no more pain.

The same biological mechanism is also thought to allow wounds to heal faster.

The findings, published in the journal Brain, open the door to new drug research in the areas of pain management and wound healing, the researchers say.

Professor James Cox, from UCL Medical School, said: “By understanding exactly what’s going on at the molecular level, we can begin to understand the biology involved, which opens up the possibility of drug discovery that could one day have profound implications for patients. positive impact”

Ms Cameron, 75, who lives near Loch Ness in the Scottish Highlands, made headlines in 2019 when scientists at University College London announced that a mutation in the previously unknown FAAH-OUT gene had left her feeling painless , stress or fear.

She discovered the condition at age 65 and sought treatment for a hip problem, and although she experienced no discomfort, it turned out to involve severe joint degeneration.

She underwent hand surgery at Raigmore Hospital in Inverness a few months later and was pain free, although the treatment is often painful.

Building on this work, the researchers found that the FAAH-OUT mutation “reduces” the expression of the FAAH gene associated with pain, mood and memory.

The team found that the level of enzyme activity in the FAAH gene was significantly reduced in Ms. Cameron’s case.

They also analyzed tissue samples to study the effects of the FAAH gene mutation on other molecular pathways and found increased activity of another gene, WNT16, previously implicated in bone formation.

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The researchers also identified changes in two other genes, BDNF and ACKR3, which they believe may have contributed to Ms Cameron’s low anxiety, fear and painlessness, the researchers said.

The senior author of the study, Dr Andrei Okorokov from UCL Medical School, said: “The FAAH-OUT gene is just one small corner of the vast continent that this research has begun to map.

“In addition to the molecular basis of painlessness, these explorations have identified molecular pathways affecting wound healing and mood, all of which are affected by FAAH-OUT mutations.

“As scientists, it’s our responsibility to explore, and I think these findings will have important implications for areas of research ranging from wound healing to depression.”

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