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Same Genetic Basis Found in 5 Types of Mental Disorders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 share several genetic glitches that can nudge the brain along a path to mental illness, researchers report. Which disease, if any, develops is thought to depend on other genetic or environmental factors.精神疾病似乎各不相同精神分裂症、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 online Wednesday in the Lancet, was based on an examination of genetic data from more than 60,000 people worldwide. Its authors say it is the largest genetic study yet of psychiatric disorders. The findings strengthen an emerging view of mental illness that aims to make diagnoses based on the genetic aberrations underlying diseases instead 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 major signaling system in the brain, giving clues to processes that might go awry and suggestions 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。“What we identified here is probably just the tip of an iceberg,” said Dr. Jordan Smoller, lead author of the paper and a professor of psychiatry at Harvard Medical School and Massachusetts General Hospital. “As these studies grow we expect to find additional 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(Harvard Medical 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(Jordan 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 new study does not mean that the genetics 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的疾病风险。Steven McCarroll, director of genetics for the Stanley Center for Psychiatric Research at the Broad Institute of Harvard and M.I.T., said it was significant that the researchers had found common genetic factors that pointed to a specific signaling system.哈佛-麻省理工博德研究所(Broad Institute of Harvard 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(Steven McCarroll) 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 important that these were not just random hits on the dartboard of the genome,” said Dr. McCarroll, who was not involved in the new study.他说, “这些遗传因素并不是随机地出现在基因组上,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 investigating genetic data generated by studies in 19 countries and including 33,332 people with psychiatric illnesses and 27,888 people free of the illnesses for comparison. The researchers studied scans of peoples DNA, looking for variations in any of several million places along the long stretch of genetic material containing three billion DNA letters. The question: Did people with psychiatric illnesses tend to have a distinctive DNA pattern in any of those locations?这项工作始于2007年,当时,由很多科学家组成的研究组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 seen some clues of overlapping genetic effects in identical twins. One twin might have schizophrenia while the other had bipolar 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 surprised them was that while one person with the aberration might get one disorder, a relative with the same mutation 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 of Neuropsychiatric Diseases at the University of California, San Diego, and one of the discoverers of this effect, said that work on these rare genetic aberrations had opened his eyes. “Two different 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, San Diego)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 new paper reports, distinguishing psychiatric diseases by their symptoms has long been difficult. Autism, for example, was once called childhood schizophrenia. It was not until the 1970s that autism was distinguished as a
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