By Holly Giles
A woman in Scotland can feel virtually no pain due to a rare genetic mutation. The 67-year-old was undergoing a normally very painful operation on her hand but experienced almost no post-operative pain. Dr Devjit Srivastava, Consultant in Anaesthesia and Pain Medicine at an NHS hospital in the north of Scotland, took notice of this, learning she has never needed painkillers and frequently burns herself on the stove; she doesn’t realise the situation until she can smell burning flesh. Not only does the lady not feel pain, her wounds heal faster, and she has reduced anxiety and fear-extinction in her memory.
She was sent to pain geneticists at University College London (UCL) who conducted a genetic analysis; they found a microdeletion in a pseudogene called FAAH-OUT and a mutation in a neighbouring gene that controls the FAAH enzyme. FAAH is well-known to researchers for being involved in pain sensation, mood and memory. Previously, it was assumed that the FAAH-OUT gene was a junk gene, but it is now suggested that it mediates FAAH expression and may be crucial in the feeling of pain. The behaviours of the patient have also been observed in mice without the FAAH gene.
The research team are continuing to work with the patient in order to understand the genetic mechanism better. “We hope that with time, our findings might contribute to clinical research for post-operative pain and anxiety,” said Dr James Cox at UCL, “and potentially chronic pain, PTSD and wound healing, perhaps involving gene therapy techniques”.
With regards to the woman, she hopes that her experiences are able to help develop new treatments. “I had no idea until a few years ago that there was anything that unusual about how little pain I feel,” she said, “I just thought it was normal. Learning about it now fascinates me as much as it does anyone else and I would be elated if any research into my own genetics could help other people who are suffering.”