“生命中没什么可怕的东西 只有需要去理解的东西 理解越多 我们的恐惧就会越少”——居里夫人
1963年 名叫斯蒂芬·霍金的21岁物理学家
In 1963, a 21-year-old physicistnamed Stephen Hawking
被确诊患有一种罕见的肌萎缩侧索硬化症
was diagnosed with a rareneuromuscular disorder
简称ALS 该病会造成神经肌肉失调
called amyotrophic lateral sclerosis,or ALS. Gradually,
他的四肢逐渐瘫痪
he lost the ability to walk,
面部变得僵硬 最后甚至连吞咽都做不到
use his hands, move his face, and even swallow.
尽管如此 在后来的50多年中
But throughout it all,he retained his incredible intellect,
他始终维持着惊人的智力
and in the morethan 50 years that followed,
霍金成了世界史上成就斐然 声名显赫的物理学家之一
Hawking became one of history’s mostaccomplished and famous physicists. However,
然而 他的病还是没治好
his condition went uncured
最终逝世于2018年 享年76岁
and he passed away in 2018at the age of 76.
霍金确诊几十年后
Decades after his diagnosis,
ALS仍然被视为最复杂 最神秘
ALS still ranks as one of the most complex, mysterious,
也最为致命的疾病之一
and devastatingdiseases to affect humankind.
ALS也被称为运动神经元疾病 卢伽雷氏症
Also called motor neuron diseaseand Lou Gehrig’s Disease,
全球每10万人中有两人罹患该病
ALS affects about two out of every100,000 people worldwide.
如果有人患病
When a person has ALS,
运动神经元
their motor neurons,
也就是控制身体里随意肌的细胞
the cells responsible for all voluntary muscle control in the body,
会失去作用并死亡
lose function and die.
没人知道这些细胞死亡的原因和过程
No one knows exactly whyor how these cells die
这也是该疾病难以治愈的原因之一
and that’s part of whatmakes ALS so hard to treat.
患者中有90%
In about 90% of cases,
病得突然 没有任何明显病因
the disease arises suddenly,with no apparent cause.
余下的10%的患者是遗传
The remaining 10% of cases are hereditary,
如果父亲或母亲患病
where a mother or father with ALS passes
体内的突变基因将遗传给孩子
on a mutated gene to their child.
首次发病往往在40岁之后
The symptoms typically first appearafter age 40.
但一些罕见病例中 比如霍金
But in some rare cases, like Hawking ’ s,
病发的更早
ALS starts earlier in life.
霍金的病例也是个医学奇迹
Hawking ’ s case was also a medical marvel
他身患重病 竟活了那么长
because of how long he lived with ALS.
确诊后
After diagnosis, most people
大多患者只能活上2到5年
with the disease live between 2 to 5 years
然后该病会引起呼吸问题 通常导致死亡
before ALS leads to respiratory problemsthat usually cause death.
霍金患病后 和其他患者一样的是
What wasn ’ t unusual in Hawking ’ s case was
他仍能学习 思考
that his ability to learn, think,
感受 他的知觉系统并未受到损伤
and perceive with his sensesremained intact.
大部分病患的认知能力并不会受损
Most people with ALS do not experienceimpaired cognition.
每年都有12万人
With so much at stakefor the 120,000 people
确诊为ALS 危在旦夕
who are diagnosed with ALS annually,
治愈该疾病已成为科学界和医疗界最为严峻的
curing the disease has become one ofour most important scientific
挑战之一
and medical challenges.
尽管很多问题尚不明朗
Despite the many unknowns,
我们还是搞清楚了该病如何作用于神经肌肉系统
we do have some insight into how ALS impacts the neuromuscular system.
它会影响上下运动神经元
ALS affects two types of nerve cells called the upper and lower motor neurons.
健康的身体中 大脑皮质中的
In a healthy body,the upper motor neurons,
上运动神经元
which sit in the brain ’ s cortex,
将大脑接收的信息传递给脊髓里的
transmit messages from the brain to the lower motor neurons,
下运动神经元
situated in the spinal cord.
然后下运动神经元会把信息传递给肌纤维
Those neurons then transmitthe message into muscle fibers,
接收到信息后 肌纤维相应地收缩或松弛
which contract or relax in response,
最终形成动作
resulting in motion.
我们每一个自发的动作都是由于
Every voluntary move we make occurs
信息沿着该路径依次传递而形成的
because of messages transmittedalong this pathway.
但患上ALS后 运动神经元开始衰弱
But when motor neurons degenerate in ALS,
中断了传递信息的过程
their ability to transfermessages is disrupted,
最终导致中枢神经系统彻底失调
and that vital signaling systemis thrown into chaos.
接收不到神经系统的指令 肌肉开始萎缩
Without their regular cues,the muscles waste away.
究竟是什么因素导致运动神经元衰弱
Precisely what makesthe motor neurons degenerate
人们百思不得其解
is the prevailingmystery of ALS.
在遗传的病例中 突变基因由父母传递给孩子
In hereditary cases, parents pass geneticmutations on to their children.
虽然是这样 但ALS包括多种基因
Even then, ALS involves multiple genes
每种基因对运动神经元的影响各不相同
with multiple possible impactson motor neurons,
专家们很难找到准确的病因
making the precise triggershard to pinpoint.
可能的病因也在增加 毒素
When ALS arises sporadically,the list of possible causes grows: toxins,
病毒 生活习性 或者其他环境因素 可能都会导致发病
viruses, lifestyle, or other environmental factorsmay all play roles.
由于涉及多种因素
And because there areso many elements involved,
目前 单一的检查并不能确定某人是否患了ALS 但是
there ’ s currently no single test that can determine whether someone has ALS. Nevertheless,
我们对病因的猜测越来越准确了
our hypotheseson the causes are developing.
目前主流的看法是 运动神经元中某个特定的蛋白质
One prevailing idea is that certainproteins inside the motor neurons
发生折叠错误 形成块状
aren’t folding correctly, and are instead forming clumps.
折叠错误的蛋白质和块状物可能会沿着细胞蔓延
The misfolded proteins and clumpsmay spread from cell to cell.
这可能会堵塞细胞赖以存活的常规进程
This could be clogging up normalcellular processes,
例如能量和蛋白质的生产制造
like energy and protein production,which keep cells alive.
我们还知道除了运动神经元和肌纤维外
We’ve also learned that along withmotor neurons and muscle fibers,
ALS也会影响其他种类的细胞
ALS could involve othercell types.
患者的大脑和脊髓通常伴有炎症
ALS patients typically have inflammationin their brains and spinal cords.
有缺陷的免疫细胞也可能会造成运动神经元的死亡
Defective immune cells may also play a role in killing motor neurons.
ALS还可能会改变保卫神经元的
And ALS seems to change thebehavior of specific cells
特定细胞的行为
that provide support for neurons.
这些因素使该病变得更复杂
These factors highlightthe disease’s complexity,
但同时也让我们
but they may also give us
对疾病的作用方式有更全面的了解
a fuller understanding of how it works,
从而找到新的方式治愈该病
opening up new avenues for treatment.
即便很慢
And while that may be gradual,
我们一直都在进步
we ’ re making progress all the time.
目前 我们正在开发新的药物
We’re currently developing new drugs,
新的干细胞疗法以修复受损细胞
new stem cell therapiesto repair damaged cells,
还有新的基因疗法 以减缓疾病的恶化
and new gene therapiesto slow the advancement of the disease.
我们越来越了解这种疾病
With our growing arsenal of knowledge,
也期盼着有一天 新的发现能够改变
we look forward to discoveriesthat can change the future
ALS患者的命运
for people living with ALS.