June 18, 2024

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Genetic study reveals why one Scottish woman can’t feel pain and her wounds heal faster

Genetic study reveals why one Scottish woman can’t feel pain and her wounds heal faster



 

Genetic study reveals why one Scottish woman can’t feel pain and her wounds heal faster.

A few years ago, Scottish woman Jo Cameron was discovered to be a medical miracle, feeling almost no pain, fear or anxiety, and her wounds healed faster thanks to a specific genetic mutation.

Now, scientists have conducted more detailed studies to figure out how this works, hoping to unlock future drug targets.

 

Cameron’s borderline superpowers were only discovered in her 60s, when she underwent two major surgeries and reported little pain afterwards.

When the doctor questioned her about her personal history of pain, she reported that she never really felt minor cuts and scrapes, and some burns she didn’t even notice until she smelled burnt flesh, which she had done before Pain medication is also not required after surgery.

 

Cameron was introduced to pain geneticists at Oxford University and University College London, who discovered two gene mutations were at the root of her condition.

One was in a gene called FAAH, which was previously thought to control pain, mood and memory. Another was previously thought to be a “junk” gene with no function, but was found in this case to mediate FAAH expression. So they named it FAAH-OUT.

 

Genetic study reveals why one Scottish woman can't feel pain and her wounds heal faster

 

 

 

Joe Cameron, she felt almost no pain and never felt anxious or scared.

In the new study, the research team investigated how FAAH-OUT works biologically. In their approach, they used CRISPR gene editing on cells to examine how the mutation affects other genes, and they examined fibroblasts taken from other patients to study how FAAH and FAAH-OUT affect other molecular pathways.

 

It turned out that FAAH wasn’t the only gene with these mutations — 348 other genes were also suppressed, while a startling 797 genes were switched on. These include the WNT pathway, which is involved in wound healing; BDNF, which is involved in mood regulation; and ACKR3, which regulates opioid levels. Taken together, these may help explain Cameron’s insensitivity to pain, her significantly faster wound healing, and her generally lower levels of anxiety and fear.

 

It’s an intriguing case study that, along with others like the Marsili family’s, could help scientists identify targets for new drug treatments to curb pain or improve mental health symptoms.

 

Dr Andrei Okorokov, senior author of the study, said: “The FAAH-OUT gene is just one small corner of a vast continent, and this study has begun to map this ‘new continent’.

Beyond the molecular basis of painless , these explorations have also uncovered molecular pathways affecting wound healing and mood, all of which are affected by FAAH-OUT mutations.

As scientists, it is our job to explore, and I think these discoveries will have implications for areas of research such as wound healing, depression, and more. Significant influence”.

The study was published in the journal Brain.

 

 

 

(source:internet, reference only)


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