Novel Gene Mutation Provides Hope for Future Pain Treatment

It wasn’t until her mid-60s that a woman in Scotland found out her lack of pain wasn’t normal. A genetic mutation had allowed her to endure burns, bone fractures, and surgery without pain, according to a case study published in the British Journal of Anaesthesia.¹

Five years ago, Joanne Cameron, now 71, underwent what should have been a painful surgery, a trapeziectomy for osteoarthritis of the hand. Remarkably, she reported no pain and required only acetaminophen after surgery.

Cameron had previously been diagnosed with osteoarthritis of the hip, which she reported as painless despite severe degeneration in her joint. At age 65, she underwent a hip replacement and was administered only paracetamol for 2 days following the surgery.

Over time, Cameron underwent multiple varicose vein and dental procedures, for which she never required analgesics. She also had experienced a laundry list of painless injuries, including a laceration and left wrist fracture, for which she likewise never needed painkillers.

Cameron reported that she only notices herself burning when she smells scorching flesh. She even reported eating Scotch bonnet chili peppers without so much as mild discomfort.

Following the painless trapeziectomy, Cameron was referred to geneticists at the University College London (UCL) and the University of Oxford. The researchers found a pair of genetic mutations that, together, allowed her to live pain- and anxiety-free.

One was a microdeletion in a pseudogene that the researchers dubbed FAAH-OUT. The other was a mutation in a neighboring gene that controls the fatty acid amide hydrolase (FAAH) gene, which is involved in signaling pain sensation, mood, and memory. The pseudogene was previously assumed to be inactive, but now the investigators believe it likely mediates the FAAH 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 James Cox, senior lecturer at UCL and one of the study’s lead researchers. “Now that we are uncovering how this newly identified gene works, we hope to make further progress on new treatment targets.”²

The investigators hope their findings might point toward a novel painkiller that could potentially offer postoperative pain relief and expedite wound healing. “I would be elated if any research into my own genetics could help the other people who are suffering,” said Cameron.

References

1. Habib AM, Okorokov AL, Hill MN, et al. Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity (published online February 22, 2019). Br J Anaesth. 2019;doi:10.1016/j.bja.2019.02.019
2. Woman with novel gene mutation lives almost pain-free. UCL. March 28, 2019. Accessed May 3, 2019.