(SALT LAKE CITY)—Establishing links between genes, the brain and human behavior is a central issue in cognitive neuroscience research, 但事实证明，研究大脑从童年到成年的发育过程中，基因如何影响认知能力和行为是很困难的.
Now, 一个国际科学家团队在了解基因如何影响大脑结构和认知能力以及神经回路如何产生语言方面取得了进展.
The team studied individuals with a rare disorder known as Williams syndrome. 通过测量大脑中与独特的语言技能和面部识别能力相关的神经活动，这些都是典型的综合症, they showed that Williams is due not to a single gene but to distinct subsets of genes, hinting that the syndrome is more complex than originally thought.
"Solutions to understanding the connections between genes, neural circuits and behavior are now emerging from a unique union of genetics and neuroscience," says Julie Korenberg, M.D., Ph.D., a University of Utah professor of pediatrics and an adjunct professor at the Salk Institute, who led the genetics aspects on the new study.
The study was led by Debra Mills, a professor of cognitive neuroscience at Bangor University in Wales. Ursula Bellugi, a professor at the Salk Institute for Biological Studies in La Jolla, was also integrally involved in the research.
Korenberg相信，通过Mills直接测量大脑放电的方法，他们可以精确地解决这个谜题，即哪些基因负责构建大脑线路，从而导致威廉姆斯综合征患者对人脸的不同反应.
"We also discovered," says Mills, "that in those with Williams syndrome, the brain processes language and faces abnormally from early childhood through middle age. 这是一个惊喜，因为之前的研究表明，威廉姆斯的部分大脑功能在成年后正常, with little understanding about how it developed."
The results of the study were published November 12 in Developmental Neuropsychology.
威廉姆斯综合症是由7号染色体上大约25个基因的两个常见拷贝中的一个缺失引起的, resulting in mental impairment. Nearly everyone with the condition is missing these same genes, 尽管少数罕见的个体保留了一个或多个大多数患有威廉姆斯的人已经失去的基因. Korenberg是研究这些部分基因缺失个体的早期先驱，作为收集这些基因和基因网络特定功能线索的一种方式. The syndrome affects approximately 1 in 10,000 people around the world, including an estimated 20,000 to 30,000 individuals in the United States.
Although individuals with Williams experience developmental delays and learning disabilities, 他们非常善于交际，拥有非凡的语言能力和面部识别技能，而智商较低. 贝鲁吉长期以来一直观察到，社交能力似乎也会驱动语言，她把职业生涯的大部分时间都花在了研究威廉姆斯综合症患者上.
"Williams offers us a window into how the brain works at many different levels," says Bellugi. "We have the tools to measure the different cognitive abilities associated with the syndrome, 多亏了朱莉和黛比，大发娱乐现在能够将这与潜在的遗传和神经学方面的研究结合起来."
Suspecting that specific genes might lie at the origins of brain plasticity, functional changes in the brain that occur with new knowledge or experiences, and that these genes might be linked to the unusual proficiencies of those with Williams, the team enrolled individuals of various ages in their study. They drew from children, 这些青少年和成年人都患有威廉姆斯综合征的完全基因缺失，并将他们与未受影响的同龄人进行比较. 他们的研究还具有重要意义，因为他们是第一批研究威廉姆斯儿童大脑结构及其功能的人之一. And, as Korenberg predicted, 这个难题的关键部分来自于他们在研究中纳入了两个患有威廉姆斯部分基因缺失的成年人.
Using highly sensitive sensors to measure brain activity, the researchers, led by Mills, 以不熟悉的面孔和口语句子的形式向研究参与者展示视觉和听觉刺激. 他们绘制了大脑对这些刺激做出反应的区域产生的电压的微小变化, a process known as event-related potentials (ERPs). Mills was the first to publish studies on Williams syndrome using ERPs, developed the ERP markers for this study, and oversaw its design and analysis.
Mills在不同年龄和发育阶段的儿童和成人中发现了威廉姆斯综合征大脑可塑性的ERP标记. 这些发现很重要，因为患有威廉姆斯综合症的人的大脑结构与没有这种综合症的人不同. In the Williams brain, the dorsal areas (along the back and top), which help control vision and spatial understanding, are undersized. The ventral areas (at the front and the bottom), which influence language, facial recognition, emotion and social drive, are relatively normal in size.
It was previously believed that in individuals with Williams, the ventral portion of the brain operated normally. What the team discovered, however, 是不是大脑的这个区域处理信息的方式也与那些没有这种综合症的人不同, and did so throughout development, from childhood to the adult years. This suggests that the brain was compensating in order to analyze information; in other words, it was exhibiting plasticity. Of additional importance, 米尔斯发现的独特的ERP标记是威廉姆斯不同大脑组织的特征，在分析大脑活动以识别威廉姆斯综合症患者时，仅这一信息就有大约90%的准确率.
该研究的其他重要发现来自于对完全威廉姆斯基因缺失和部分基因缺失参与者的erp的比较. While psychological tests focused on facial recognition show no difference between these groups, the scientists found differences in these recognition abilities on the ERP measurements, which look directly at neural activity. Thus, the scientists were able to see how very slight genetic differences affected brain activity, 这将使他们能够确定威廉姆斯基因子集在大脑发育和成人面部识别能力中的作用.
通过将这些百万分之一的人与能够直接测量大脑活动的工具结合起来, 科学家们现在有了前所未有的机会来研究精神疾病的遗传基础. The results of this study not only advance science's understanding of the links between genes, the brain and behavior, but may lead to new insight into such disorders as autism, Down syndrome and schizophrenia.
"By greatly narrowing the specific genes involved in social disorders, 大发娱乐的发现将有助于发现治疗的目标，并大发娱乐提供一些措施，通过这些措施和其他治疗方法，可以成功地缓解自闭症的绝望, anxiety and other disorders," says Korenberg.
The research was supported by grants from the National Institute of Child Health and Human Development; the National Institute of Neurological Disorders and Stroke; and the Utah Science, Technology and Research Initiative.
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About the University of Utah
The University of Utah, situated in Salt Lake City, was founded in 1850 and enrolls over 26,000 students. 它是国际知名的基础神经科学家团队的主要机构之一, 医生和工程师密切合作，从药物发现到自闭症治疗，创造出创造性的解决方案, social behavior, cancer, diabetes and aging. Set in the beauty of the American west, this unique environment offers 75 undergraduate degree programs, along with more than 50 teaching majors and minors, and 96 graduate majors. According to the National Science Foundation, the university is ranked among the top 35 research institutions in the country.
About the Salk Institute for Biological Studies
索尔克生物研究所是世界上最杰出的基础研究机构之一, where internationally renowned faculty probe fundamental life science questions in a unique, collaborative, and creative environment. Focused both on discovery and on mentoring future generations of researchers, Salk scientists make groundbreaking contributions to our understanding of cancer, aging, Alzheimer's, diabetes and infectious diseases by studying neuroscience, genetics, cell and plant biology, and related disciplines.
About Bangor University
Founded in 1884, Bangor University in Wales has a long tradition of excellence in research and teaching. Bangor has over 11,000 students based in 23 Academic Schools grouped into five colleges. 班戈心理学院在上一届英国研究评估活动中排名英国第11位，并在QS世界大学排名中跻身全球前100名心理学系之列. 班戈大学心理学院因其在认知神经科学领域的领先地位而享有国际声誉.