英婦基因突變 無痛感也不會焦慮 2019-03-29 〔編譯茅毅／綜合報導〕七十一歲英國女子卡麥隆（Jo Cameron）幾乎不會感到疼痛和壓力、覺得焦慮或有恐懼感。在二十八日出版的「英國麻醉學期刊（ＢＪＡ）」中，探索卡麥隆ＤＮＡ（去氧核醣核酸）的醫學專家指出，她身上有兩種值得注意的基因突變，其一會抑制疼痛與焦慮，其二則讓人快樂、忘卻身心的痛苦煩憂，還有助傷口痊癒。已知全球僅兩人出現如此罕見的基因突變。
常被燒燙不自知 從未要求開止痛藥 卡麥隆至今有過四肢骨折、刀傷和燒燙傷，並接受多次外科手術，卻幾乎不覺得痛，連分娩時都覺得還「滿愉快的」。醫師查閱其病歷後發現，她從未要求開止痛藥。她使用爐灶時，常被燒燙卻不自知，直至聞到手臂發出的焦味。她在出現走路失去平衡的症狀下，照了Ｘ光後，才赫然發現其髖關節塌陷，病情嚴重，但其家庭醫師和醫院長達三到四年都因為她沒有任何痛楚而打發她回家。在她六十五歲時接受一次手部大手術後，醫師發現她幾乎對疼痛「無感」，於是帶她去找「倫敦大學學院（ＵＣＬ）」及英國牛津大學的疼痛遺傳學者做基因檢測，發現基因突變使她身心從不會感到痛楚，也沒有不安與恐慌。兩年前發生車禍，她還能爬出車外，反過來安慰肇事者，之後才注意到自己受傷。她也一向樂觀、快樂，在壓力及沮喪檢測的得分竟是零。ＵＣＬ研究團隊在卡麥隆的ＤＮＡ發現兩種基因突變，第一種突變在一般人之中常見，會抑制名為ＦＡＡＨ的基因活動，該基因製造的酵素，會抑制體內主要與痛感、心情及記憶有關的化學物質花生四烯乙醇胺（anandamide），而她體內的花生四烯乙醇胺是一般人的兩倍。第二種突變則是一種此前未知的新基因，並將之命名為ＦＡＡＨ-ＯＵＴ，能調控ＦＡＡＨ。研究人員認為，可能還有更多人像她這樣。此一發現可能有助於術後疼痛及焦慮、慢性疼痛、創傷後壓力症候群與傷口癒合的臨床研究。
Scientists find genetic mutation that makes woman feel no pain Discovery in 71-year-old Jo Cameron may aid development of new pain relief treatments Thu 28 Mar 2019 00.01 GMT Last modified on Thu 28 Mar 2019, www.theguardian.com/ Jo Cameron has experienced broken limbs, surgery and childbirth with little or no need for pain relief. Photograph: Mark Pinder/The Guardian Doctors have identified a new mutation in a woman who is barely able to feel pain or stress after a surgeon who was baffled by her recovery from an operation referred her for genetic testing. Jo Cameron, 71, has a mutation in a previously unknown gene which scientists believe must play a major role in pain signalling, mood and memory. The discovery has boosted hopes of new treatments for chronic pain which affects millions of people globally. Cameron, a former teacher who lives in Inverness, has experienced broken limbs, cuts and burns, childbirth and numerous surgical operations with little or no need for pain relief. She sometimes leans on the Aga and knows about it not from the pain, but the smell. "I'm vegan, so the smell is pretty obvious," she says. "There's no other burning flesh going on in the house." But it is not only an inability to sense pain that makes Cameron stand out: she also never panics. When a van driver ran her off the road two years ago, she climbed out of her car, which was on its roof in a ditch, and went to comfort the shaking young driver who cut across her. She only noticed her bruises later. She is relentlessly upbeat, and in stress and depression tests she scored zero."I knew that I was happy-go-lucky, but it didn't dawn on me that I was different," she says. "I thought it was just me. I didn't know anything strange was going on until I was 65." The moment of realisation came when Cameron had x-rays for a bad hip. Now and again her hip would give way, making her walk lop-sided. For three or four years, her GP, and then the hospital, turned her away because she was not in pain. When she was finally scanned, the x-rays revealed massive deterioration of the joint. "I'd not had a twinge. They couldn't believe it." Cameron duly had her hip replaced, coping on two paracetamol the day after. But while she was in hospital, doctors noticed that her thumbs were deformed by osteoarthritis. They immediately booked her in for a double hand operation, a procedure described as "excruciating" by one surgeon. Again, Cameron felt almost no pain after the operation. A consultant, Devjit Srivastava, who was overseeing her care at Raigmore hospital in Inverness, was so stunned that he referred her to pain specialists at UCL in London. In a case report published on Thursday in the British Journal of Anaesthesia, the UCL team describe how they delved into Cameron's DNA to see what makes her so unusual. They found two notable mutations. Together, they suppress pain and anxiety, while boosting happiness and, apparently, forgetfulness and wound healing. The first mutation the scientists spotted is common in the general population. It dampens down the activity of a gene called FAAH. The gene makes an enzyme that breaks down anandamide, a chemical in the body that is central to pain sensation, mood and memory. Anandamide works in a similar way to the active ingredients of cannabis. The less it is broken down, the more its analgesic and other effects are felt. The second mutation was a missing chunk of DNA that mystified scientists at first. Further analysis showed that the "deletion" chopped the front off a nearby, previously unknown gene the scientists named FAAH-OUT. The researchers think this new gene works like a volume control on the FAAH gene. Disable it with a mutation like Cameron has and FAAH falls silent. The upshot is that anandamide, a natural cannabinoid, builds up in the system. Cameron has twice as much anandamide as those in the general population When the researchers explained the mutations to Cameron, a lot of her past made more sense. The time she broke her arm as an eight-year-old and didn't tell anyone for days, until the bone started resetting at a funny angle. That she could eat scotch bonnet chillies and feel only a "pleasant glow" in her mouth. That she is always ironing herself, and that her multiple cuts and burns heal so swiftly."I was quite amused when I found out," Cameron said. "And then they told me about these other things, the happiness and the forgetfulness. I'm always forgetting things; I always have done. It's good in lots of ways but not in others. I don't get the alarm system everyone else gets." Cameron's mother felt pain normally, as does her daughter. But her son, who carries the second and more important mutation, has a dulled sense of pain. He never takes painkillers and frequently scalds his mouth with hot drinks and food. Scientists suspect that Cameron's father may have passed the mutation on to her. James Cox, a researcher on the study, said that in extreme cases, mutations can lead people to feel no pain whatsoever. "This patient doesn't have a complete loss of pain sensitivity, but we do see that. When they are young, they typically bite off parts of the tongue, and parts of their fingers because they haven't learned that it's dangerous." Cox said of Cameron: "There's an awful lot we can learn from her. Once we understand how the new gene works, we can think about gene therapies that mimic the effects we see in her. There are millions of people living in pain and we definitely need new analgesics. Patients like this can give us real insights into the pain system." Cameron hopes that talking about her condition might boost scientific progress. "There may be more like me who are out there that haven't realised what is different about them," she says. "If they go and help out with the experiments, it may do something to get people off manmade painkillers and on to more natural ways of relieving pain."
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