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逆天体质,或造福人类

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.

一名外科医生为一名女性在术后的神速恢复感到疑惑,随后将这名几乎感觉不到疼痛或压力的女性转介给遗传学医生进行基因测试,医生们在这名女性身上发现了一种新的突变。

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.

71岁的乔·卡梅隆体内有一种以前不为人知的基因发生了突变,科学家们认为,这种基因在疼痛信号、情绪和记忆力方面发挥着重要作用。这一发现带来了人们对治疗慢性疼痛的希望,全球有数百万人受到慢性疼痛的影响。

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. 

卡梅伦曾是一名教师,住在因弗内斯,经历过断肢、割伤和烧伤、分娩和无数次手术,几乎甚至根本不需要止痛。

She sometimes leans on the Aga and knows about it not from the pain, but the smell.

她有时会用Aga这种药物,不是因为疼痛,而是因为气味。

 “I’m vegan, so the smell is pretty obvious,” she says.

“我是素食主义者,所以这种药的味道会很明显,”她说。

 “There’s no other burning flesh going on in the house.”

“并不是因为家里有人烧伤了。”

But it is not only an inability to sense pain that makes Cameron stand out: she also never panics. 

但让卡梅伦脱颖而出的,不仅是她无法感受到痛苦:她还从来不恐慌。

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. 

两年前,一名货车司机开车把她撞倒,她从车顶沟里爬了出来,反而去安慰那个撞到她身上、浑身发抖的年轻司机。

She only noticed her bruises later. 

到了后来她才注意到她的瘀伤。

She is relentlessly upbeat, and in stress and depression tests she scored zero.

她极度乐观,在压力和抑郁测试中,她的分数为零。

“I knew that I was happy-go-lucky, but it didn’t dawn on me that I was different,” she says.

“我知道我是一个无忧无虑的人,但我没觉得这又什么与众不同的,”她说。

 “I thought it was just me. I didn’t know anything strange was going on until I was 65.”

“我以为这就是我的性格。直到65岁,我才知道发生了什么奇怪的事情。”

The moment of realisation came when Cameron had x-rays for a bad hip. 

当卡梅隆因为臀部受伤接受了x光检查时,她终于开始意识到了这一点。

Now and again her hip would give way, making her walk lop-sided. 

她的臀部植入物不时地会垮掉,使她走起路来歪歪扭扭的。

For three or four years, her GP, and then the hospital, turned her away because she was not in pain. 

三四年来,她的家庭医生和医院都拒绝让她去就医,因为她没有感到疼痛。

When she was finally scanned, the x-rays revealed massive deterioration of the joint.

当她最终被扫描时,x光片显示关节处已经严重恶化了。

 “I’d not had a twinge. They couldn’t believe it.”

“我一点也不疼。他们简直不敢相信。”

Cameron duly had her hip replaced, coping on two paracetamol the day after. 

第二天,卡梅隆仅仅服用了用两片扑热息痛就赶紧替换了髋关节。

But while she was in hospital, doctors noticed that her thumbs were deformed by osteoarthritis.

但当她住院时,医生注意到她的拇指因骨关节炎而变了形。

 They immediately booked her in for a double hand operation, a procedure described as “excruciating” by one surgeon. 

他们立即为她安排了双重手术,一名外科医生称这个手术会“非常痛苦”。

Again, Cameron felt almost no pain after the operation.

手术后,卡梅隆又是几乎没有感到疼痛。

 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.

德芙吉特·斯里瓦斯塔瓦是一名顾问,当时正在因弗内斯的莱格莫尔医院监督她的治疗。

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. 

在周四发表在《英国麻醉学杂志》上的一篇案例报道中,伦敦大学学院的研究小组描述了他们是如何深入研究卡梅伦的DNA,以了解她为何如此与众不同。

They found two notable mutations.

他们发现了两个显著的突变。 

Together, they suppress pain and anxiety, while boosting happiness and, apparently, forgetfulness and wound healing.

它们共同抑制疼痛和焦虑,同时促进快乐,显然还有健忘和伤口愈合。

The first mutation the scientists spotted is common in the general population. 

科学家们发现的第一个突变在普通人群中也很常见。

It dampens down the activity of a gene called FAAH. 

它抑制了一种叫做FAAH的基因的活性。

The gene makes an enzyme that breaks down anandamide, a chemical in the body that is central to pain sensation, mood and memory. 

该基因产生一种酶,可以分解体内对痛觉、情绪和记忆至关重要的一种化学物质——大麻素。

Anandamide works in a similar way to the active ingredients of cannabis. 

大麻素的作用原理与大麻的活性成分类似。

The less it is broken down, the more its analgesic and other effects are felt.

它分解得越少,它的镇痛作用和其他作用就越明显。

The second mutation was a missing chunk of DNA that mystified scientists at first. 

第二个突变是一段缺失的DNA片段,起初让科学家们感到很困惑。

Further analysis showed that the “deletion” chopped the front off a nearby, previously unknown gene the scientists named FAAH-OUT. 

进一步的分析表明,这种“缺失”切断了附近一个先前未知的基因的前端,科学家们将其命名为FAAH-OUT。

The researchers think this new gene works like a volume control on the FAAH gene. 

研究人员认为这种新基因就像对FAAH基因进行音量控制一样。

Disable it with a mutation like Cameron has and FAAH falls silent. 

用像卡梅隆这样的的基因突变使之失效,FAAH就会沉默。

The upshot is that anandamide, a natural cannabinoid, builds up in the system.

其结果是,一种天然的大麻素就会在这个系统中生成。

 Cameron has twice as much anandamide as those in the general population.

卡梅隆体内的大麻素含量是普通人群的两倍。

When the researchers explained the mutations to Cameron, a lot of her past made more sense. 

当研究人员向卡梅隆解释了这些突变时,她发现过去的许多经历都说得通了。

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. 

那年她八岁的时候曾摔断了胳膊,好几天都没有告诉任何人,直到后来骨头开始以一个有趣的角度复位。

That she could eat scotch bonnet chillies and feel only a “pleasant glow” in her mouth. 

她可以吃苏格兰帽辣椒,嘴里只感到一种“愉快的味道四射”。

That she is always ironing herself, and that her multiple cuts and burns heal so swiftly.

她总是自己熨衣服,她的伤口和烧伤也会愈合得很快。

“I was quite amused when I found out,” Cameron said.

“当我发现的时候,感到很开心,”卡梅隆说。

 “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.”

“然后他们也告诉了我一些其他的事情,关于快乐和健忘。我总是忘记事情;我一直都这样。它在很多方面都很好,但在其他方面则不然。我会没有其他人都有的警报系统。”

Cameron’s mother felt pain normally, as does her daughter. 

卡梅隆的母亲和她的女儿都能感到正常的疼痛。

But her son, who carries the second and more important mutation, has a dulled sense of pain. 

但是,她的儿子,携带了第二种,也是更重要的突变,拥有了一种迟钝的痛感。

He never takes painkillers and frequently scalds his mouth with hot drinks and food. 

他从不吃止痛药,经常会被热饮和食物烫伤嘴。

Scientists suspect that Cameron’s father may have passed the mutation on to her.

科学家们怀疑卡梅隆的父亲可能把这种突变遗传给了她。

James Cox, a researcher on the study, said that in extreme cases, mutations can lead people to feel no pain whatsoever.

研究人员詹姆斯·考克斯说,在极端情况下,基因突变会导致人们感觉不到任何疼痛。

 “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.”

“这个病人并没有完全丧失对疼痛的敏感度,但我们确实看到了这种可能性。当他们年轻的时候,他们通常会咬掉舌头的一部分或手指的一部分,因为他们还没有意识到这是危险的。”

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.”

考克斯这样评价卡梅隆:“我们可以从她身上学到很多东西。一旦我们了解了新基因的工作原理,我们就可以考虑模仿我们在她身上看到的效果的基因疗法。有数百万人生活在痛苦之中,我们绝对需要新的止痛药。这样的病人能让我们对疼痛系统有真正的了解。”

Cameron hopes that talking about her condition might boost scientific progress. 

卡梅隆也希望谈论她的病情能够促进科学的进步。

“There may be more like me who are out there that haven’t realised what is different about them,” she says. 

她说:“可能有更多像我这样的人还没有意识到自己的不同之处。”

“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.”

.“如果他们去帮助做实验,这可能会让人们不再服用人造止痛药,转而使用更自然的方式来缓解疼痛。”

问题

文中提到卡梅隆感觉不到疼痛是为什么呢?

A.性格乐观

B.药物作用

C.基因遗传

D.修炼大法

留言回复正确选项,前十名朋友可以获得红包哦!赶快来试试吧!

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