Jo Cameron is the only known person in the world to have two genetic mutations that cause her to feel almost no pain.
It took a group of experts 10 years to figure out how their genetic differences work. It all started in 2013, after an operation on one of her hands, when she was 65 years old.
“I had an operation for arthritis in my hand and I was talking to the anesthetist, and he told me that it would be a very, very painful operation and that I would be in a lot of pain afterwards,” the woman told the BBC.
“I told him: ‘It won’t be like that, I don’t feel pain.'” “After the operation, she came to see me and said: ‘You haven’t taken anything for the pain. This is very unusual.'”
Then the anesthetist saw that she felt nothing and referred her to pain geneticists at University College London (UCL) and the University of Oxford. The team collected tissue and blood samples to look at her DNA.
After six years of research, they revealed that mutations in the previously unknown FAAH-OUT gene caused Cameron, who lives near Loch Ness in Scotland, to feel no pain, stress or fear.
What is the FAAH-OUT gene mutation?
The FAAH-OUT gene is a member of a group of genes that have long been considered “junk DNA.” But scientists are now learning its importance in processes like fertility, aging, and disease.
In this case, the researchers identified which genes are linked to a lack of pain sensation, which genes help prevent feelings of anxiety and depression, and which genes help Jo heal faster.
They found that the FAAH-OUT mutation “turns down” the expression of the FAAH gene, which is associated with pain, mood and memory. The mutation also causes a reduction in the FAAH enzyme.
Jo’s FAAH gene also has a mutation, meaning the enzyme is less active. The enzyme is a biological catalyst that creates a protein. It normally breaks down the “happiness” molecule called anandamide in humans, but it doesn’t work properly for Jo.
Scientists have also discovered that the two mutations that Jo has go beyond the lack of pain, but are also connected to her healing processes.
“They are somehow connected. Their cells can heal 20 to 30% faster, which is incredible, so you can imagine the potential it has in terms of wound healing,” says Andrei Okorokov, an associate professor at the UCL and co-lead author of the study published in the neurology journal Brain.
“The mutation deletes part of the FAAH-OUT gene and turns it off. Jo also has another mutation in the FAAH gene. So far, we don’t know of anyone else in the world who has both mutations.”
Why do we need to feel pain?
Pain is essential to protect us from harmful and life-threatening events. The consequences of not feeling pain can be serious.
Jo, who often burns her arms in the oven, he has to trust the smell of charred flesh to tell that his skin is burning.
“We have worked with other patients who also do not feel pain because they have mutations in other genes, and sometimes they have suffered serious injuries. So, feeling pain is a good thing, but sometimes the pain can become chronic and stop being useful, “says James Cox, professor of human pain genetics at UCL and also an author of the study.
Growing up, Jo had no idea that there was something different about her. She has never taken anything for pain control.
“I didn’t think it was unusual because it was just me,” she says. “I have kids, I have a husband of many years, and they just thought she had a huge pain threshold.”
Jo’s genetic mutations also make her process upset feelings much faster.
“I feel the same emotions as anyone else when unpleasant things happen, I react instantly like anyone else would,” he says. “But then right away I keep thinking there must be something I can do and start thinking of strategies to get out of it.”
Professor Cox hopes the findings will allow new research on medications to help with pain control, wound healing, and mental health.
“Chronic pain is the most prevalent health condition of our time, and new pain relievers are in dire need. By understanding how FAAH-OUT works at the molecular level, we hope that new and better pain-relieving drugs can be developed,” he says.
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BBC-NEWS-SRC: https://www.bbc.com/mundo/noticias-internacional-65771987, IMPORTING DATE: 2023-06-01 08:10:05
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