罕见基因突变使婴儿肌肉异常增多!
日期:2019-02-05 14:11

(单词翻译:单击)

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Hey there! Welcome to Life Noggin! Hello Mr. Penguin! Nice jorts! Looking good!
大家好!欢迎来到脑洞大开的生命奇想!
Less than 20 years ago, a German child was born who appeared incredibly muscular.
不到20年前,有一个德国小孩出生时肌肉异常发达r~*,tAPi8PT^cBeg7
Doctors followed his development and found that, at four and a half years old, the size of his quadriceps was over seven standard deviations above the average for his age.
然后医生们跟踪了这个小孩的成长过程,他们发现小孩在4岁时的四头肌的大小比同龄儿童的平均水平高出七个标准差YYCxSVD;5N([s3C9
And the thickness of his fat was nearly three times below the average, but otherwise he was completely healthy.
而且这个小孩的脂肪厚度比同龄儿童的平均水平小三倍,但是其他方面来说他是非常健康的KZb6V0Zftw-@7OGE
His mother and several other family members, including uncle and grandfather, were reported as being unusually strong, but none to the extent of this boy.
据报道,小孩的母亲和包括他叔叔和爷爷在内的其他几位家庭成员都异常强壮,但是没有人能到达这个小孩的地步a3aRzmhMNl0[
Genetic testing showed that he and his mother both had a mutation in a certain gene -
基因检测显示小孩和他的母亲的一个特定基因都有一个突变-p2mk|W@9zk[@5WWg
the mother with a mutation in one of the two alleles she inherited from her parents, and the boy with a mutation in both.
母亲从父母那里遗传的两个等位基因中有一个发生了突变,男孩从父母那里遗传的两个等位基因中也有一个发生了突变Mh@3&7j,]^].Z(
The gene that held the mutation is associated with the production of myostatin.
携带突变的这个基因和肌肉生长抑制素的产生有关uv2T*-ubw&*G
Myostatin is one protein in a larger group of proteins called the transforming growth factor beta superfamily.
肌生成抑制素是一种蛋白质,它是构成转化生长因子超家族的蛋白质之一ex^tNs4I,E,kf#k(o
They are responsible for the growth and development of the various tissues in your body.
这些蛋白质负责你体内各种组织的生长和发育k,vbjGdUT%9L
Myostatin is predominantly found in your skeletal muscles, the ones that help you move around,
肌生成抑制素主要存在于帮助你移动的骨骼肌中,
but newer research suggests that it might also play a role in the regulation of heart size.
但最新研究表明,它也可能在调节心脏大小方面发挥作用YVm=&*g49,i5Q!#

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罕见基因突变使婴儿肌肉异常增多!.jpg

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Its job is to restrain muscle growth and make sure that they don’t grow too large.
肌生成抑制素的作用是抑制肌肉的生长,并确保它们不要长得太大&rJ(9s^S8v5;iUvdA
A mutation in the myostatin gene can alter your cells’ production of the myostatin protein,
肌生成抑制素基因的突变可以改变细胞产生肌生成抑制素蛋白的量,
resulting in an overgrowth of muscle known as myostatin-related muscle hypertrophy.
这会导致肌肉过度生长,即肌生成抑制素相关的肌肉肥大wGhEB;B]vxMQeFt%n
This is a rare condition that results in up to twice as much of the usual muscle mass,
这是一种罕见的情况,通常会导致人拥有两倍于正常的肌肉量,
with increased strength and reduced body fat, but with otherwise no known medical problems.
同时导致力量增强和身体脂肪减少,但没有其他已知的健康问题CqmJ+XsQ=_NP
This is a very rare way to get super buff. Triangle Bob has just been chugging protein powder and raw eggs,
有极少的方法可以让人变得非常健康,三角鲍勃最近正在吃蛋白粉和生鸡蛋Ox-Qv&]O+Otpwl
and well he still looks the same, but you're doing great buddy! Keep doing that, i guess!
而且他看起来还是一样,但是哥们你做的很棒,继续吧不要停!
The function of the myostatin gene was discovered by researchers in 1997.
肌肉生成抑制素基因的功能是由研究人员在1997年发现的b*o%O=WBTB,Z7XN6BkB
They were studying the effect of disrupting, or turning off,
研究人员研究的是破坏或者去掉老鼠中这种基因后的效果,
this gene in mice and found that mice with the disrupted gene had skeletal muscles weighing two to three times more than those with intact genes,
他们发现破坏掉这种基因的老鼠的骨骼肌的重量是拥有这种基因老鼠的骨骼肌的重量的2到3倍339^[y5T~tC^fX.V(Kz%
indicating that the gene’s role is to inhibit skeletal muscle growth.
这说明肌肉生成抑制素基因的功能是抑制骨骼肌的生长4(~FY#FYyj~7K
While this disease is rare disease in humans, similar mutations have also been observed in certain breeds of dogs, pigs, sheep, and cattle.
这种疾病在人类中是罕见的,在特定品种的狗、猪、羊和牛的身上也发现了相似的基因突变P^_zHZAgyZ
In fact, Belgian Blue and Piedmontese cattle breeds, who both contain a mutation in the myostatin gene, are often referred to as double-muscled.
事实上,比利时蓝牛和皮埃蒙特牛都含有肌生成抑制素基因突变,它们通常被称为双肌肉牛smmdY|;5CI)jO_Sb;|l
They’re super strong - and also, if i'm gonna be honest, a little scary… is that one looking at me?
它们超级强壮——而且,说实话,还有一点可怕……这只牛在看我吗?
I feel like that one's looking at me, right?
我觉得这个牛在看我,对吧?
Since limiting myostatin production increases muscle mass and strength,
因为限制肌肉生长抑制素的产生会增加肌肉的质量和力量,
scientists are exploring ways to apply that knowledge to treat muscle wasting diseases like muscular dystrophy.
所以科学家们正在探索将这些知识应用于治疗肌肉萎缩症等肌肉萎缩疾病的方法C9p6|D#l_Hw[&nXu-b
In experiments testing the effects of anti-myostatin substances,
在测试抗肌生成抑制素物质效果的实验中,
researchers found promising results with muscle mass regulation and the maintenance of skeletal muscle during heart failure.
研究人员发现,在心衰期间肌肉质量的调节和骨骼肌的维持方面有较好的结果k@sObGa+KwI*
However, clinical trials with these kinds of therapies showed no effect on muscle strength.
然而,这些治疗方法的临床试验对肌肉强度没有影响i;CXwEj77;=E
And a 2007 study on mice found that inhibiting myostatin increased muscle mass, as we’d expect,
2007年在老鼠身上的一项研究发现抑制肌生成抑制素会增加肌肉质量,这在我们的意料之中,
but didn’t make those mice any stronger than the others.
但是这并没有使那些老鼠比其它老鼠更强壮;[DyG&Is*,32_E3
Clearly, there is more to consider than simply stopping myostatin.
显然,除了仅仅考虑减少肌肉生长抑制素,还需要考虑更多东西]);h^Y(3|g@hAIO%]eB
And before an anti-myostatin drug can be developed, scientists need to continue working towards a more complete understanding of its effects on muscle development.
所以科学家在研制出抑制肌生成抑制素药物之前,需要继续研究肌肉生长抑制素,以更彻底的了解它对肌肉生长的作用c(1gc|cP_Q.3(d!q
Hopefully someday soon we will get there. Until then i'm going to keep running from these cows because they're still chasing me!
希望那一天会尽快到来#PURK,[KJo-。在那之前,我得继续奔跑下去,因为这些母牛还在追着我!
Curious to know more about a rare syndrome that essentially turns you to stone? Check out this video!
想知道一种可以把你变成石头的罕见疾病吗,看看这个视频吧!
Imagine one day you find a huge lump on your rib cage, and even after getting it x-rayed you still don't know what's going on.
设想一下,有一天你发现你的胸腔上有一个巨大的肿块,即使照了X光,你仍然不知道这是什么情况%]%3R&-Xqw+
As always, my name is Blocko, this has been Life Noggin, don't forget to keep on thinking!
我是宝高,这里是脑洞大开的生命奇想[0wOq8ECRpW!2(P)T。思考不要停!

z2@5N1^zTDRqC%5f!#ohfn9tV_k)6Z,%ttX,l@Ja8KlZkai[6z!kIC^
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