The Woman Who Doesn’t Feel Pain – New Study Reveals Her Unique Molecular Machinery — New research from Universi |
New research from UCL, investigating the biology of a rare genetic mutation that enables carrier Jo Cameron to live virtually without pain and fear while also healing quickly, discovered that the mutation in FAAH-OUT gene ‘turns down’ FAAH gene expression, affecting molecular pathways related to wound healing and mood, thereby offering potential new targets for drug discovery.
gene and its rare mutations, which make Jo Cameron almost immune to pain, and devoid of fear and anxiety. The latest study elucidates how this mutation reduces the expression of thegene and impacts other molecular pathways associated with mood and wound healing. The insights garnered from these findings could potentially pave the way for novel drug targets and foster further research in these domains.
Jo, who lives in Scotland, was first referred to pain geneticists at UCL in 2013, after her doctor noticed that she experienced no pain after major surgeries on her hip and hand. After six years of searching, they identified a new gene that they named, which contained a rare genetic mutation.
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 analyzing the expression of genes to see which were active in molecular pathways involved with pain, mood, and healing.. When it is significantly turned down as a result of the mutation carried by Jo Cameron, FAAHDr.
Professor James Cox , a senior author of the study, said: “The initial discovery of the genetic root of Jo Cameron’s unique phenotype was a eureka moment and hugely exciting, but these current findings are where things really start to get interesting. By understanding precisely what is happening at a molecular level, we can start to understand the biology involved and that opens up possibilities for drug discovery that could one day have far-reaching positive impacts for patients.
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