Woman with genetic ‘superpower’ could help usher in new pain medications

28 Mar 2019744 Views

Share on FacebookTweet about this on TwitterShare on LinkedInShare on Google+Pin on PinterestShare on RedditEmail this to someone

Image: © Victor Moussa/Stock.adobe.com

Share on FacebookTweet about this on TwitterShare on LinkedInShare on Google+Pin on PinterestShare on RedditEmail this to someone

A 71-year-old woman who has lived her life with almost no physical pain or anxiety thanks to a genetic mutation could revolutionise medicine.

At a time when superheroes dominate the screens of cinemas, little did we know that an elderly Scottish woman with a strange genetic mutation had her own superpower of sorts. 71-year-old Jo Cameron feels almost no physical pain, never experiences anxiety or fear and, incredibly, may have wound-healing capabilities unlike anyone else found so far.

In a paper published the British Journal of Anaesthesia, researchers who investigated Cameron’s highly unusual advantage traced it back to a mutation in a previously unidentified gene.

“We found this woman has a particular genotype that reduces activity of a gene already considered to be a possible target for pain and anxiety treatments,” said one of the study’s lead researchers, Dr James Cox of University College London (UCL).

“Now that we are uncovering how this newly identified gene works, we hope to make further progress on new treatment targets.”

At the age of 65, Cameron sought treatment for an issue with her hip, noticing that she was not walking right. After examination, it was found that she had severe degeneration, despite the fact she had felt no pain throughout.

The year before, she underwent surgery on her hand in what is normally a very painful procedure – however, she also experienced no pain. Similar stories have happened throughout her life, with Cameron saying that she has never had to take painkillers.

‘The implications for these findings are immense’

After being referred to a pain geneticist at UCL and the University of Oxford, Cameron was found to have two notable mutations. One was a microdeletion in a pseudogene, previously only briefly mentioned in medical literature, and which the researchers have described for the first time as FAAH-OUT. She also had a mutation in the neighbouring gene that controls the FAAH enzyme.

While FAAH was well known to pain researchers as being behind endocannabinoid signalling central to pain sensation, mood and memory, the FAAH-OUT gene was thought to be a non-functional ‘junk’ one, at least until now.

Diving deeper into her history, Cameron said that cuts and bruises always healed very quickly for her, but also recalls having memory lapses throughout life such as forgetting words or keys, which has previously been associated with enhanced endocannabinoid signalling.

“The implications for these findings are immense,” said Dr Devjit Srivastava, co-lead author of the paper.

“The findings point towards a novel pain killer discovery that could potentially offer post-surgical pain relief and also accelerate wound healing. We hope this could help the 330m patients who undergo surgery globally every year.”

Colm Gorey is a journalist with Siliconrepublic.com

editorial@siliconrepublic.com