Jo Cameron, a 75-year-old Scottish woman, has lived her entire life without experiencing significant pain due to a rare condition called congenital analgesia. Scientists at University College London (UCL) are studying her genes to gain insights into pain pathways and potentially develop treatments for chronic pain.
Cameron's condition is linked to a variation in the FAAH-OUT gene, which modulates the FAAH gene responsible for reducing anxiety and promoting absentmindedness. Researchers hope to discover new ways to target pain and develop effective drugs by understanding the molecular mechanisms.
Historically, the FAAH-OUT gene was considered non-functional "junk" DNA. However, recent research has revealed its crucial role in regulating FAAH. Both genes are often co-expressed in the same cells. When the FAAH-OUT gene was silenced or edited in lab-grown human cells, the expression of FAAH was reduced. This had implications for pain and opioid receptors, wound-healing lipids, and brain proteins related to mood modulation.
The study conducted by UCL researchers sheds light on the molecular basis of painlessness and uncovers molecular pathways associated with wound healing and mood regulation influenced by the FAAH-OUT mutation. The findings have implications for various research areas, such as wound healing and depression.
While Cameron has lived most of her life unaware of her unique condition, she now understands how different her life experience has been compared to others. The hope is that by unravelling the secrets of her cells, scientists can contribute to a happier and less painful existence for many more individuals.
The research, published in the journal 'Brain', highlights the potential of studying rare individuals like Jo Cameron to uncover valuable insights into human biology and pave the way for new therapeutic approaches in pain management and related fields.