People who suffer from a variety of painful diseases dream of a pain-free existence, but this is impossible without the right medication. Now, researchers have identified a rare genetic mutation in a woman that enables her to experience almost no pain throughout her life and to never experience anxiety or fear.
Scientists at University College London (UCL) have said that they have discovered and figured out the mechanism of a rare genetic mutation in 75-year-old Scottish woman Jo Cameron.
The scientists' findings, which have been published in the journal Brain, explain how mutations in the FAAH-OUT gene work at the molecular level, enabling Jo Cameron, from Scotland, to escape the experience of pain.
As per a release by the institute, in this study, the team from UCL sought to understand how FAAH-OUT works at a molecular level, which is the first step towards being able to take advantage of this unique biology for applications like drug discovery.
This included a range of approaches, such as CRISPR-Cas9 experiments on cell lines to mimic the effect of the mutation on other genes, as well as analysing the expression of genes to see which were active in molecular pathways involved with pain, mood, and healing.
The team observed that FAAH-OUT regulates the expression of FAAH. When it is significantly turned down as a result of the mutation carried by Jo Cameron, FAAH enzyme activity levels are significantly reduced.
"The FAAH-OUT gene is just one small corner of a vast continent, which this study has begun to map. As well as the molecular basis for painlessness, these explorations have identified molecular pathways affecting wound healing and mood, all influenced by the FAAH-OUT mutation. As scientists, it is our duty to explore, and I think these findings will have important implications for areas of research such as wound healing, depression, and more," said Dr Andrei Okorokov (UCL Medicine), a senior author of the study.
The scientific community thinks this discovery could result in better painkillers if it is applied in the appropriate way.