五种精神病中发现共同基因故障

1、实用标准文案Same Genetic Basis Found in 5 Types of MentalDisorders五种精神病中发现共同基因故障The psychiatric illnesses seem very different schizophrenia , bipolar disorder autism , major depression and attention deficit hyperactivity disorder. Yet they shareseveral genetic glitches that can nudge the brain along a pat

2、h to mental illness, researchers report. Which disease, if any, develops is thought to depe nd on other gen etic or en viro nmen tal factors.精神疾病似乎各不相同一一精神分裂症、躁郁症、孤独症、重性抑郁症和注意缺陷多动症。 然而，研究人员报告，这些疾病有几个共同的基因故障，这些故障将会使大脑出现病变。如果发病，究竟是哪种疾病，取决于其他基因或者环境因素。Their study, published on li neWedn esdayin the Lan

3、cet, was based on anexam in ati on of gen etic data from more tha n 60,000 people worldwide. Its authors say it is the largest genetic study yet of psychiatric disorders.The findingsstre ngthe n an emerg ing view of men tal ill ness that aims to make diag no ses based on the gen etic aberrati ons un

4、 derly ing diseases in stead of on the disease symptoms.他们的研究于本周三发表在柳叶刀(Lancet)杂志的网站上，是以世界各地 6万多人的基因数据检测为基础的。论文作者称，该研究是目前精神疾病领域规模最大的基因研究。研究结果为精神疾病领域最近出现的一种观点提供了支持，即要根据疾病背后的基因异常，而非疾病症状，来进行诊断。Two of the aberrations discovered in the new study were in genes used in a majorsignalingsystem in the brain,

5、giving clues to processes that might go awry andsuggesti ons of how to treat the diseases.这项新研究中发现两处异常的基因是在人脑一个主要信号系统中发挥作用的基因，为了解病变过程提供了线索，也为疾病的治疗提供了建议。said Dr. Jorda“ What we identified here is probably just the tip of an iceberg,Smoller, lead author of the paper and a professor of psychiatry at Ha

6、rvard MedicalSchool and Massachusetts Gen eral Hospital.As these studies grow we expect tofind additi onal genes that might overlap.”“我们这里的发现可能只是冰山一角，”这篇论文的第一作者、哈佛医学院(HarvardMedical School) 和马萨诸塞州总医院 (Massachusetts General Hospital)的精神病学教授乔丹斯莫勒尔(Jorda n Smoller)说。“随着研究发展，可能会发现更多基因， 这些基因可能 有重叠。”The n

7、ew study does not mean that thegenetics of psychiatric disorders are simple.Researchers say there seem to be hundreds of genes involved and the gene variations discovered in the new study confer only a small risk of psychiatric disease.新的研究并不意味着精神疾病的基因问题很简单。研究人员表示，似乎有数百个基因与此相关，而且这项新研究中所发现的基因变异只会造成很小

8、的疾病风险。StevenMcCarroll, director of genetics for the Stanley Center for PsychiatricResearch at the Broad Institute of Harvard and M.l.T., said it was significant that the researchers had found com mon gen etic factors that poin ted to a specific sig nali ngsystem.哈佛-麻省理工博德研究所 (Broad Institute of Harv

9、ard and MIT) 斯坦利港精神病学研究中 心(Stanley Center for Psychiatric Research)遗传学负责人史蒂文麦卡罗尔(StevenMcCarroll)说，研究人员找到了指向一个特定信号系统的普遍遗传因素，这一点意义重大。It is very importa nt that these were not just ran dom hits on the dartboard of thegeno me, ” saidDr. McCarroll, who was not in volved in the new study.他说，“这些遗传因素并不是随机地

10、出现在基因组上，这非常重要。”麦卡罗尔没有参与这项研究。The work began in 2007 when a large group of researchers began investigatinggen etic data gen erated by studies in 19 coun tries and in cludi ng 33,332 people with psychiatric illnesses and 27,888 people free of the illnesses for comparison. The researchers studied sca ns

11、 of people s DNA, look ing for variati ons in any of severalmillion places along the long stretch of genetic material containing three billion DNA letters. The question:Did people with psychiatric illnesses tend to have adisti nctive DNA pattern in any of those locati ons?这项工作始于2007年，当时，由很多科学家组成的研究组

12、开始对一批基因数据进行研究， 这些基因数据来自对19个国家33332名精神疾病患者和对照组的27888名未患精神疾病的人的研究。研究人员研究了DNA的扫描图像，在包含30亿个DNA核苷酸的一长串遗传物质上的数百万个位点寻找突变。他们的问题是，精神疾病患者是否会在其中的某个位点上有特殊的DNA模式？Researchers had already see n some clues of overlapp ing gen etic effects in ide nticaltwins . One twin might have schizophrenia while the other had bi

13、polar disorder.About six years ago, around the time the new study began, researchers had examined the genes of a few rare families in which psychiatric disorders seemed especially prevalent. They found a few unusual disruptions of chromosomes that were linked to psychiatric illnesses. But what surpr

14、isedthem was that while oneperson with the aberration might get one disorder,a relative with the samemutation got a different one.研究人员已经在同卵双胞胎身上发现了重叠基因影响的线索。 双胞胎中可能有一人患精神分 裂症， 而另一人可能会患躁郁症。大约六年前，也就是开始这项新研究时， 研究人员已经对 几个罕见的家族的基因进行了检测， 在这些家族当中， 精神疾病似乎非常普遍。 他们发现了 一些与精神疾病有关的染色体异常断裂的情况。 但让他们吃惊的是， 同样的基因突变在一

15、个 人身上可能引发一种精神疾病，而在他的亲属身上，却可能引发另一种精神疾病。Jonathan Sebat, chief of the Beyster Center for Molecular Genomics ofNeuropsychiatric Diseases at the University of California, San Diego, and one of thediscoverers of this effect, said that work on these rare genetic aberrations had opened his eyes. “ Two diffe

16、rent diagnoses can have the same genetic risk factor, he said.乔纳森赛巴特(Jonathan Sebat)是加州大学圣迭戈分校(University of California, SanDiego) 贝斯特神经精神疾病分子基因组学中心 (Beyster Center for Molecular Genomics of Neuropsychiatric Diseases) 的负责人，也是重叠基因影响的发现者之一。他表示，研 究罕见的基因突变让他大开眼界。他说，“两种不同的诊断结果可能有共同的基因风险因 素。”In fact, the

17、new paper reports, distinguishing psychiatric diseases by their精彩文档symptoms has long been difficult. Autism, for example, was once called childhoodschizophrenia.It was not until the 1970s that autism was distinguished as aseparate disorder.新论文称，事实上，根据症状区分精神疾病一直很难。例如，自闭症曾被称作儿童精神分裂症。直到20世纪70年代，自闭症才被单独

18、列为一种精神疾病。The new study found four DNA regi ons that con ferred a small risk of psychiatric disorders. For two of them, it is not clear what genes are in volved or what they do, Dr. Smoller said. The other two, though, involve genes that are part of calcium cha nn els, which are used whe n n euro ns

19、send sig nals in the brain.新研究发现了四个带来精神疾病发病风险的DNA区域。斯莫勒尔博士表示，在其中两个区域，还不清楚涉及哪些基因， 以及那些基因有什么作用。 但另外两个区域包含组成钙通道的 基因，钙通道在大脑神经元发出信号时发挥作用。“ The calcium channel findings suggest that perhaps and this is a big if treatme nts to affect calcium cha nnel functioning might have effects across a range of disorde

20、rs,” Dr. Smoller said.斯莫勒尔博士说，“钙通道的相关发现说明，影响钙通道功能的治疗方法也许会对一系列精 神疾病产生疗效这是一个非常大胆的猜想。”There are drugs on the market that block calcium cha nn els they are used to treathigh blood pressure and researchers had already postulated that they might be useful for bipolar disorder eve n before the curre nt findin gs.市场上有一些用于治疗高血压的药物，可以堵塞钙通道。在得出当前研究结果之前，研究人员就已经猜测，这些药物可能对治疗躁郁症有帮助。On