Thursday, 25 April, 2019

Woman with novel gene mutation lives nearly pain

Supergran: Woman (67) with mutant gene feels no pain and heals without scarring Woman Feels Virtually No Pain Due to Strange Mutation
Celia Hoffman | 30 March, 2019, 22:42

Scientists in the United Kingdom have discovered a new genetic mutation in a Scottish woman, which means she feels virtually no pain, fear or panic, a medical journal said on Thursday.

She first came to researchers' attention when she was 65 years old and she had sought treatment for her hip, which had suffered severe joint degeneration.

Speaking of her condition, Cameron said: "When I was eight, I broke my arm roller-skating and didn't realise".

Doctors have suggested that her case could provide clues to new ways of treating post-operative pain, or speeding wound healing. But luckily Cameron possesses another superman trait: she heals quickly and often with very little or no scarring at all. "Once we understand how the new gene works, we can think about gene therapies that mimic the effects we see in her". They discovered a mutation in a region called FAAH-OUT, previously assumed to be junk DNA, as well as a mutation in the neighboring gene that controls an enzyme known as FAAH.

The specialists found that the mutation is on a previously unknown gene.

Researchers note that she has a microdeletion in her DNA, as well as an abnormal FAAH gene, which has been linked to varying degrees of pain insensitivity in others.

Mice lacking the FAAH gene present with reduced pain sensation, accelerated wound healing and enhanced fear-extinction memory.

"The implications for these findings are huge", said Dr Devjit Srivastava, the Raigmore pain consultant who diagnosed her.

Jo Cameron (left) with her husband Jim and children Jeremy and Amy.

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"I had no idea until a few years ago that there was anything that unusual about how little pain I feel", Cameron, 71, said in the statement.

A 71-year-old woman feels nearly no pain and does not have any fear because of a gene mutation, researchers have found Jo Cameron, 71, sometimes burns or cuts herself and she will not notice until she sees the scar or blood.

Doctors at Raigmore Hospital, Inverness, found her hip to be severely arthritic and in need of replacing.

Cameron tells the story of breaking her arm when she was eight and not noticing until it began to set at an odd angle; and of having her vehicle flipped in a road accident and calmly walking away to comfort the other driver involved. She is an optimist who was given the lowest score on a common anxiety scale, and reports never panicking even in risky situations such as a recent traffic incident.

"When [the doctor] found I hadn't had any [painkillers], he checked my medical history and found I had never asked for painkillers", Cameron told the BBC. (PA) The pensioner also reported memory lapses throughout life such as forgetting words or keys.

Dr Srivastava said: "The implications for these findings are enormous".

For her part, Cameron hopes the research might lead to advances against pain.

To that, Cameron added, "I would be elated if any research into my own genetics could help other people who are suffering". "We hope this could help the 330 million patients who undergo surgery globally every year", Srivastava remarks. "I don't get the alarm system everyone else gets". The case, published in the British Journal of Anaesthesia, could open the door for a host of new treatments to help people recover from surgery, manage chronic pain and anxiety disorders.

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