外媒导读 | 科学家发现导致多发性硬化症的遗传基因

小白老师2016/06/03

科学家发现一种名为NR1H3的基因突变与罕见的遗传性多发性硬化症(MS)密切相关,该突变在特定家族中以显性方式遗传,并显著增加患病风险。这一发现为理解MS的发病机制及开发靶向治疗提供了新方向。

关键要点

  • 研究人员在两个患有多发性硬化症的家族中发现NR1H3基因突变,携带者约70%会发病。
  • 该突变影响调控炎症的蛋白开关,导致免疫系统攻击神经髓鞘,引发MS症状。
  • 尽管此基因变异罕见,仅影响约千分之一的MS患者,但其机制可能适用于更广泛的进行性MS研究。
  • 已有针对NR1H3通路的实验性药物正在开发用于心血管疾病和糖尿病,或可被重新用于MS治疗。
  • 该研究证实MS存在单基因遗传形式,挑战了以往认为MS仅由多基因与环境共同作用的观点。

小白老师说:这是一则最新的医学新闻报道,科学家声称发现一种新的基因,该基因能导致一种罕见的遗传性多发性硬化症。文中可能的生词都给大家做好了详细的注解,包括音标、词性、中文和例句。同时,甄选了文中可借鉴的实用表达。希望能帮助大家阅读和写作水平。

我们今天要阅读的是BBC News 6月1日的报道

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Scientists discover an inherited gene for MS

Scientists say they have found a gene that causes a rare but inherited form of multiple sclerosis.

multiple sclerosis 多发性硬化症,即MS

例:A Chinese neurosurgeon claims to have successfully used cells from aborted foetuses to treat people with conditions such as spinal cord injuries and multiple sclerosis.

一位中国神经外科医生声称,利用流产胎儿的细胞,他能够成功地治疗诸如脊髓损伤和多发性硬化症病人。

It affects about one in every thousand MS patients and, according to the Canadian researchers, is proof that the disease is passed down generations.

该疾病是遗传性的。

遗传性疾病:hereditary disease / inherited disease

Experts have long suspected there’s a genetic element to MS, but had thought there would be lots of genes involved, as well as environmental factors.

The finding offers hope of targeted screening and therapy, Neuron reports.

这一发现为有针对性的筛查和治疗提供了希望。

实用表达:

The fingding offers hope of (doing) sth. 这一发现为…提供了希望。

此句建议摘录。

The University of British Columbia studied the DNA of hundreds of families affected by MS to hunt for a culprit gene.

culprit ['kʌlprit] n. 罪魁祸首,元凶

Principal Culprit 首恶 ; 主凶 ; 首犯

accessory culprit 从犯

例:Study authors say lack of acceptance from friends and family is the likely culprit.

研究作者称,缺乏来自朋友与家庭的认可很可能是罪魁祸首。

They found it in two sets of families containing several members with a rapidly progressive type of MS.

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In these families, 70% of the people with the mutatio****n developed the disease.

mutation [mju:'teiʃən] n. 突变

Although other factors may still be important and necessary to trigger the disease process, the gene itself is a substantial causative risk factor that is passed down from parents to their children, say the researchers.

trigger v. 触发,引起

trigger 本意就是枪械的扳机,有导火索的含义,这里用做动词,表示触发,导致,相当于cause,但是trigger就非常的生动形象,有“突然导致、激发”的意思,建议备考2017医博英语考试的同学把该词收入囊中,考试时有机会卖弄出来,绝对是加分的好词

例:Scientists have discovered that we have mirror neurons that trigger us to directly experience the emotional atmosphere of others.

科学家发现我们都有反射神经元,会直接引起我们对他人情绪氛围的体验。

The mutation is in a gene called NR1H3, which makes a protein that acts as a switch controlling inflammation.

1. switch n. 开关

例:As doctorss we are always “on”, but it’s okay to flip the switch every once in while.

作为医生,我们一直处于“工作”状态,但是偶尔也可以调一下开关,稍微休息一下。

2. inflammation n. 炎症

diminish inflammation 消炎

In MS the body’s immune system mistakenly attacks the protective layer of myelin that surrounds nerve fibres in the brain and spinal cord, leading to muscle weakness and other symptoms.

在多发性硬化症中,人体的免疫系统错误地攻击了包裹在大脑和脊髓的神经纤维外围的髓磷脂保护层,从而导致了肌肉衰弱以及其他症状。

myelin ['maɪəlɪn] n . 髓磷脂

nerve fibre 神经纤维

spinal cord 脊髓

Studies in mice show that knocking out the function of the same gene leads to neurological problems and decreased myelin production.

The researchers believe stopping the inflammation early might prevent or delay the disease. They already have drugs in mind that might do this by targeting the NR1H3 gene pathway.

These drugs are in development for other diseases, including cardiovascular disease and diabetes.

cardiovascular adj. 心血管的

Researcher Dr Carles Vilarino-Guell said: “These are still early days and there is a lot to test, but if we are able to repurpose some of these experimental drugs, it could shorten the time it takes to develop targeted MS treatments.”

repurpose vt. 赋予新的用途

例:Those can be exploited to create entirely new medicines, or to repurpose existing treatments. (此例句来自BBC)

He said the same treatments might help other patients with progressive MS - even if they don’t have exactly the same gene mutation.

Dr Sorrel Bickley from the MS Society said understanding how genes influence a person’s risk of developing MS is a really important area of research.

Whilst the gene variant identified was associated with rapidly progressing forms of MS in the two families studied, the variant itself is rare and most people with MS won’t have it. This research does however give us an insight into how progressive forms of MS develop, which could help to inform the development of new treatments in the future.”

whilst conj. 同时;当…的时候

variant ['vɛrɪənt] n. 变体;转化

这个小节有个非常实用的表达:

This research does however give us an insight into … 然而,就…的问题,该研究未能做深入的探讨。

这个表达可以在写作中(一般是文末)用来表示某个研究或解决方案的缺陷和不足。建议摘录。

News Resource: 1 June 2016, BBC News

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常见问题

多发性硬化症是遗传病吗?

大多数多发性硬化症并非典型遗传病,但最新研究发现一种罕见的单基因突变(NR1H3)可直接导致家族性遗传型MS,约占所有MS病例的千分之一。

NR1H3基因如何导致多发性硬化症?

NR1H3基因突变会破坏其编码的蛋白对炎症的调控功能,导致免疫系统异常攻击包裹神经纤维的髓磷脂,从而引发神经损伤和MS症状。

这项发现对普通MS患者有何意义?

虽然该基因变异本身罕见,但其揭示的炎症通路机制可能适用于其他进行性MS类型,有助于开发通用靶向疗法。

是否有现成药物可用于治疗这种遗传性MS?

目前尚无获批药物,但研究团队已锁定几种正在研发中的、靶向NR1H3通路的实验性药物(原用于心血管病和糖尿病),有望通过‘老药新用’加速MS治疗开发。

参考资料

NR1H3 mutation associated with familial multiple sclerosis

相关研究发表于《Neuron》期刊,具体论文信息未在原文中提供