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FAAH-OUT mutation for a life of no pain – No FAAH, no pain

A Scottish woman claims that she has not experienced pain over some supposedly painful conditions, like a severe joint degeneration or a post-operation she underwent for her hand due to osteoarthritis. Accordingly, she never needed painkillers and her case astounded doctors.

A baffling case

Doctors were baffled when the 71-year old Scottish woman, Jo Cameron, came to seek treatment for her hip problem six years ago (at age 65). Astonished, the doctors found out that her joint severely degenerated and by that they expected her to experience excruciating pain just as a typical person would. However, she showed no signs of discomfort over it. Furthermore, she said that at age 66 she underwent a supposedly painful operation on her hand due to osteoarthritis yet felt no pain after. According to the news1, Cameron was not aware at first for feeling virtually no pain over such situations. Purportedly, she thought that what she felt (i.e. lack of a thwarting pain) was normal. She later learned about her lack of pain and the plausible reason only recently.

FAAH-OUT

Researchers went on to see what caused Cameron’s bizarre lack of pain. They suspected that her genes could shed light to her case. Hence, they analyzed her genes. Subsequently, they found mutations, thereby, affirming their hunch. According to their genetic analyses2, Cameron had two mutations: (1) a microdeletion in a pseudogene and (2) a mutation in a nearby gene controlling the enzyme fatty acid amide hydrolase (FAAH).2

The pseudogene was only partly annotated in the medical literature. Thus, researchers describing the gene and subsequently calling it FAAH-OUT was a first. Previously thought of as a “junk gene”, FAAH-OUT could probably be more than that. It likely regulates FAAH expression as postulated by the research team.2 Consequently, they now look upon how it works.

FAAH gene

With regard to the FAAH gene, researchers know this gene encodes for the FAAH enzyme involved in endocannabinoid signaling. In essence, FAAH normally degrades anandamide (a fatty acid neurotransmitter) into free arachidonic acid and ethanolamine. Thus, without FAAH, the levels of anandamide would increase significantly. This, in turn, leads to a reduced pain sensation, as observed in FAAH knockout mice.3 FAAH knockout mice demonstrated not only the absence of pain but reduced anxiety and faster wound healing as well.2,3

Likewise, Cameron purportedly exhibits similar traits. According to her, she never panics (even in dangerous situations), has no fears, and is immune to anxiety. She would also have bouts of cuts and burns in which she would not notice sometimes albeit her injuries would heal very quickly.2 The tests revealed that she had elevated levels of anandamide – an indication of a lack of FAAH function.2

Novel pain treatment targets

FAAH-OUT gene mutation
Mutation in FAAH-OUT gene resulted in more anandamides, which in turn leads to feeling of no pain, reduced anxiety, and quick wound healing. [Photo by juan mendez from Pexels]

One of the lead researchers of the study, Dr. James Cox, said that Cameron has a genotype that reduced gene activity. Cox and his research team are optimistic that their discovery could possibly lead to novel pain and anxiety treatments that target this newly-identified gene.2 Their findings might lead to novel strategies that would eventually help patients suffering from severe pain despite receiving advance pain killer medications.

— written by Maria Victoria Gonzaga

References:

1 Hunt, K. (2019 March 28). “Woman who feels no pain could help scientists develop new painkillers”. Retrieved from CNN website [Link]

2  University College London. (2019 March 27). “Woman with novel gene mutation lives almost pain-free”. Retrieved from Eureka website [Link].

3 Cravatt, B.F., Demarest, K., Patricelli, M.P., Bracey, M.H., Giang, D.K., Martin, B.R., & Lichtman, A.H. (2001). “Supersensitivity to anandamide and enhanced endogenous cannabinoid signaling in mice lacking fatty acid amide hydrolase”. Proceedings of the National Academy of Sciences of the United States of America, 98 (16): 9371–6. 

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