A rare genetic mutation allows a 75-year-old British woman to feel no pain | British News


Scientists have discovered how a rare genetic mutation in a British woman allows her to live a nearly pain-free life and never feel anxious or anxious.

Experts from University College London (UCL) have discovered how mutations in the FAAH-OUT gene work at the molecular level and allow Jo Cameron to not feel pain.

It is believed that the same biological mechanisms also enable faster wound healing.

Researchers said the findings, published in the journal Brain, open doors for research into new drugs in the areas of pain management and wound healing.

Professor James Cox of UCL Medicine said: “By understanding exactly what is happening at the molecular level, we can begin to understand the biology involved and this opens up opportunities for drug development that could one day have far-reaching beneficial implications for patients. “.”

Ms Cameron, 75, who lives near Loch Ness in the Scottish Highlands, made headlines in 2019 when scientists at UCL announced that mutations in the previously unknown FAAH-OUT gene meant she didn’t experience pain, stress or anxiety felt fear.

She found out about the condition when she was 65 and underwent treatment for a problem with her hip, which was severe joint degeneration, although she had felt no discomfort.

Months later she underwent hand surgery at Raigmore Hospital in Inverness and reported no pain afterward, although the treatment is usually very painful.

Building on this work, the researchers found that the FAAH-OUT mutation “decreased” expression of the FAAH gene, which is linked to pain, mood and memory.

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

They also analyzed tissue samples to study the effects of FAAH gene mutations on other molecular signaling pathways and found increased activity in another gene called WNT16, which had previously been linked to bone formation.

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

dr Andrei Okorokov, also of UCL Medicine, a senior author on the study, said: “The FAAH-OUT gene is just a small corner of a vast continent that this study has begun to map.”

“In addition to the molecular basis for painlessness, these investigations also identified molecular pathways that affect wound healing and mood, all of which are influenced by the FAAH-OUT mutation.”

“As scientists, it is our duty to research this and I think these findings will have important implications for research areas such as wound healing, depression and more.”

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