Life Without Pain: Rare Genetic Mutation In Woman Unveils New Possibilities

Wouldn't life be awesome if we felt no pain? A rare genetic mutation allows a British woman to live an almost pain-free life. Owing to this rare mutation, 75-year-old Jo Cameron never feels anxious or afraid.

In a research done by experts from University College London (UCL), it was found that mutations in the FAAH-OUT gene work at the molecular level, allowing Cameron to not feel pain. This is the same mechanism that scientists associate with the ability of wounds to heal faster. The findings, published in the journal Brain, suggest that new drug research in the field of pain management could be opened up due to this study.

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How a woman lives a painless life

"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," said UCL Medicine's James Cox. Cameron first made headlines when scientists discovered (in 2019) that a previously unknown FAAH-OUT gene mutation allowed her to feel no pain, stress, or fear.

The condition was first discovered when she was 65. At that time, she was seeking treatment for an issue with her hip that was undergoing severe joint decay even though she had experienced no pain. Months later, she underwent surgery on her and reported no pain afterwards. This shocked doctors, considering it's a very painful procedure.

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It turned out later that FAAH-OUT mutation "turns down" the expression of the FAAH gene that is usually associated with pain, mood, and memory. In the woman's case, the enzyme activity levels in the FAAH gene were significantly reduced.

Researchers also studied tissue samples to study the effects of FAAH gene mutations on other molecular pathways, finding increased activity in another gene called WNT16, previously linked to bone generation. Modifications were also noted in two other genes, BDNF and ACKR3, which they believe are responsible for Cameron's low fear, anxiety, and painlessness.

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"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," said Dr. Andrei Okorokov, a senior author of the study. "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."

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