Research from University College London (UCL) has unveiled the biological mechanisms behind a rare genetic mutation in the FAAH-OUT gene, which allows its carrier, Jo Cameron, to experience minimal pain and rapid healing. This follow-up study builds on findings from 2019, revealing that the mutation reduces FAAH gene expression, significantly impacting molecular pathways related to pain, mood, and wound healing.
Cameron, noted for her lack of pain during surgeries, was studied after her case piqued the interest of pain geneticists in 2013. The FAAH-OUT mutation was identified in conjunction with a common mutation in FAAH, marking a breakthrough in understanding her unique characteristics.
The research involved techniques like CRISPR-Cas9 to investigate the mutation’s molecular effects, revealing that it turns down FAAH activity, while also affecting 797 other genes, including those linked to the WNT pathway—crucial for wound healing—and BDNF, associated with mood regulation. This comprehensive understanding of the FAAH-OUT mutation not only reveals potential targets for drug discovery but also holds promise for advancements in treating conditions like depression and wound healing. The study emphasizes the importance of exploring these pathways for future therapeutic developments.
