Rare genetic mutation makes woman not feel pain or fear – 01/06/2023 – Equilibrium

Scotswoman Jo Cameron is the only known person in the world who has two rare genetic mutations that make her practically feel no pain and make her cells recover faster than normal.

It took 10 years for scientists to understand how these mutations work. It was surgery in 2013 that revealed that the then 65-year-old had a lack of pain sensitivity.

“I had surgery for arthritis in my hand. I spoke to the anesthesiologist and he said the operation would be very, very painful and I would be in a lot of pain afterwards,” Cameron, now 75, told the BBC.

“I said: I won’t feel it, I don’t feel pain.”

Said and done: after the operation, the doctor noticed that the elderly woman did not need to take any medicine and said that it was “very unusual”.

Anesthetist Devjit Srivastava then referred her case to geneticists who study pain at University College London (UCL) and the University of Oxford, both in the United Kingdom.

The team of experts took samples of Jo Cameron’s tissue and blood to analyze her DNA.

After six years of research, they revealed that mutations in the hitherto unknown FAAH-OUT gene make Cameron feel virtually no pain, stress or fear.

newly discovered mutation

FAAH-OUT is part of a group of genes that for a long time was seen as a negligible part of DNA. But recently, scientists are better understanding the role of these genes in fertility, aging and illness.

In the case of Jo Cameron, the researchers were able to identify which genes are linked to a lack of sensitivity to pain, which genes ward off feelings associated with anxiety and depression, and which genes help the elderly woman to heal faster.

Scientists have discovered that the FAAH-OUT mutation “reduces” the expression of the FAAH gene, which is linked to pain, mood and memory. The mutation also causes a reduction in the production of the FAAH enzyme.

This enzyme is normally responsible for breaking down the anandamide molecule – known as the happiness substance – in humans, but it doesn’t work properly for Jo.

Scientists have also discovered that the two mutations Jo has go beyond not feeling pain – they are also linked to healing.

“Her cells can heal 20 to 30 percent faster, which is amazing,” says Andrei Okorokov, an associate professor at UCL and co-author of a study on the mutation 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 carries both mutations.”

Why do most people feel pain?

Pain is essential to protect us from harmful or even life-threatening risks. The consequences of not feeling pain can be serious.

For Jo, who frequently burns her arms in the oven, it is only when she smells her burnt skin that she realizes what has happened.

“We work with other patients who also do not feel pain because they have mutations in other genes, and sometimes they suffer serious injuries. Therefore, feeling pain is good, but sometimes the pain can become chronic and not be useful anymore”, he says. James Cox, professor at UCL and co-author of the study.

Growing up, Jo had no idea there was something different about her. She never took anything to ease the pain.

“I have kids, I’ve had a husband of many years and they just thought I had a huge pain tolerance.”

The genetic mutations also allow her to process upsetting feelings much faster.

“I feel the same emotions as anyone else when unpleasant things happen, I react instantly like anyone else would,” she says. “But immediately I think there must be solutions and start thinking about strategies.”

Professor Cox hopes the findings will pave the way for research into drugs for mental health, pain management and wound healing.

“Chronic pain is the most prevalent health condition of our time, and we urgently need new analgesics. By understanding at the molecular level how FAAH-OUT works, we hope that new and better pain relief drugs can be developed.”

This text was published here