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Discovering a rare genetic mutation that enabled a British woman to live without experiencing pain, anxiety, or fear

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Mary McNally
Mary McNally is a UK-based author exploring the intersection of fashion, culture, and communication. With a talent for vivid storytelling, Mary's writing captures the complexities of modern life engagingly and authentically.

Scientists have found out how a rare genetic mutation allows its carrier to live without pain, recover faster, and not experience anxiety and fear.

The study, published in the journal Brain, follows the team’s 2019 discovery of the FAAH-OUT gene and rare mutations that keep Joe Cameron from Scotland living completely pain-free and never worried or afraid.

Scientists at University College London (UCL) have determined how mutations in the FAAH-OUT gene work at the molecular level, allowing Cameron to avoid pain.

It is believed that the same biological mechanisms allow wounds to heal faster. The scientists said the findings open the door to new drug research related to pain relief and wound healing.

Professor James Cox of the University of California, Los Angeles, one of the study’s lead authors, explained: “By understanding exactly what’s going on at the molecular level, we can begin to understand the biology involved, and this opens up the possibility of discovering drugs that could have far-reaching benefits.” effects.”

Ms Cameron, 75, who lives near Loch Ness in Scotland, made headlines in 2019 when UCLA scientists announced that mutations in a previously unknown FAAH-OUT gene caused her not to feel no pain, no stress, no fear.

The region of the genome containing FAAH-OUT was previously thought to be “junk” DNA with no function, but was found to mediate the expression of FAAH, a gene that is part of the endocannabinoid system. system), well known for its involvement in pain, mood, and memory.

genetic mutation allows British, 75 years old, not to feel pain https://t.co/F7TxcLnPt4

– Independent (@Independent) May 24, 2023

The case was discovered when a 65-year-old woman sought treatment for a hip problem that turned out to include severe joint degeneration, although she was not in pain.

A few months later, she underwent surgery on her arm at Wraigmore Hospital in Inverness, after which she reported no pain, although the treatment is usually very painful.

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

The team found that in Ms. Cameron’s case, the levels of enzyme activity in the FAAH gene were significantly reduced.

They also analyzed tissue samples to study the effect of FAAH gene mutations on other molecular pathways and found increased activity of another gene, known as WNT16, which has previously been associated with bone formation.

The team also found changes in two other genes, BDNF and ACKR3, that are thought to help reduce Cameron’s anxiety, fear and painlessness.

“The FAAH-OUT gene is just a small corner of the vast continent that this study has begun to map,” said one of the study’s lead authors, Dr. Andrey Okorukov of the University of California, Los Angeles. identified “molecular pathways affecting wound healing and mood, all of which are affected by the FAAH-OUT mutation. As scientists, we have an obligation to research, and I believe that these results will have important implications for areas of research such as wound healing, depression. , and more.”

Source: Independent

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