“The Science Behind Jo Cameron’s Rare Genetic Mutation That Causes No Pain”

Jo Cameron is one of only two people on Earth known to have an extremely rare genetic mutation that causes them to feel virtually no pain, intense fear, or apprehension.

Body gets better at healing

The condition was not discovered until late in life: at the age of 65, she went to the doctor, who was surprised to find that one of her hips was so damaged that she should have been in debilitating pain for a long time.

A year later, when she underwent major surgery on her hand — one of the most nerve-rich parts of our body — and said she didn’t need painkillers, she was referred to a team of researchers at University College London, who are working on a better understanding the biology of pain and touch.

In 2019, they published the results of their research in the British Journal of Anaesthesia. The cause of Cameron’s rare condition turned out to be a gene the scientists call FAAH-OUT.

We all have the FAAH-OUT gene, but in Cameron’s case, the researchers identified a mutation that knocked out parts of the gene that somehow prevented her from feeling pain. The researchers think the mutation may also cause her body to heal faster than others, and she’s also more absent-minded and less anxious than usual.

Now the same team of researchers has looked again at the genetic mutation and the cause of her non-existent pain threshold.

Pains turned off

With the new research, published in the scientific journal Brainthe researchers wanted to understand how FAAH-OUT works at the molecular level.

To that end, they performed a series of experiments, including using the CRISPR gene-editing tool to mimic the mutation and its effect on other genes. They also analyzed which genes were active in relation to pain, mood and healing.

One of the discoveries was that the mutation in the FAAH-OUT gene ‘switches off’ the FAAH gene, which also affects the molecules involved in wound healing and mood, among other things.

“The FAAH-OUT gene is just a tiny corner of a large continent mapped by this study,” says Dr. Andrei Okorokov, the study’s lead author in a press release.

He and the rest of the team hope that their research into Jo Cameron’s rare mutation and the mechanisms behind it can lead to new insights into pain management.

“The initial discovery of the genetic basis of Jo Cameron’s unique traits was an aha experience and extremely exciting. But with the new discoveries things get really interesting,” says Professor James Cox, one of the researchers, in a press release.

‘By understanding exactly what is happening at the molecular level, we can gain insight into the biology involved. And this opens up possibilities for future drugs that could have profound benefits for patients,” says Cox.