TechnologyA study finally reveals why this Scottish woman doesn't feel pain, fear or anxiety

A study finally reveals why this Scottish woman doesn’t feel pain, fear or anxiety

There is a woman in Scotland who does not feel the same as the rest of the mortals: Her name is Jo Cameron, and it came to light a few years ago that she hardly feels pain and experiences virtually no fear or anxiety. Also, your wounds heal faster,

Although it was known that this peculiar phenomenon is due to a rare genetic mutation, it has not been until now that UCL scientists have unraveled the biology behind itan investigation that could open doors to future drug targets.

The study, published in the journal Braincontinues the discovery made by the teams in 2019 about the FAAH-OUT gene and the rare mutations that endow the Scottish patient with these strange superpowers.

The Jo Cameron Story

The Jo Cameron case began to be studied in 2013, after her doctor found she was pain-free after major surgeries on her hip and hand.

When doctors investigated his personal history, CAmeron explained that he never felt the little cuts and scratches, and some burns he didn’t even notice until he smelled burning flesh. He also had not needed painkillers to take painkillers after previous surgeries.

Cameron was referred to pain geneticists at Oxford and University College London, who identified two genetic mutations as the cause of her condition. Were needed 6 years of searching to discover his new gene —the one named FAAH-OUT— which contained a rare genetic mutationadded to another more common mutation in FAAH.

The gene called FAA is responsible for control pain, mood and memory.

The other was thought to be a non-functioning “junk” gene, but in this case it was found to mediate FAAH expression. So they called it FAAH-OUT.

As the statement issued by UCL explains, the new research describes how the mutation in FAAH-OUT “turns off” FAAH gene expression, as well as knock-on effects on other molecular pathways related to wound healing and mood.

It could be said that Jo is unique.

In this study, the UCL team sought to understand how FAAH-OUT works at a molecular level. To do this, they used CRISPR gene editing in cells to see how the mutation affected other genes, and examined fibroblasts taken from other patients to study how FAAH and FAAH-OUT affect other molecular pathways.

The team found that FAAH-OUT regulates the expression of FAAH. When it is greatly decreased as a result of the mutation carried by Jo Cameron, the activity levels of the FAAH enzyme are significantly reduced.

But in addition, FAAH is not the only gene that is reduced by these mutations: another 348 genes are also deleted, while 797 genes are activated. Among these are the WNT pathway, related to wound healing; BDNF, associated with mood regulation; and ACKR3, which regulates opioid levels.

in this way, thusThis could explain Cameron’s insensitivity to pain, rapid wound healing, and generally lower levels of anxiety and fear.

From this discovery, further investigations of therapeutic targets could be carried out for relieve pain or improve mental health symptoms.

“The FAAH-OUT gene is only a small corner of a vast continent, which this study has begun to map,” celebrates Dr. Andrei Okorokov, lead author of the study. From the team perspective, the findings will have important implications in areas such as depression or wound healing.

LEAVE A REPLY

Please enter your comment!
Please enter your name here

Latest Posts

Read More
More