盐湖城, UT - 4月21日, 2010 – Although genetics is the most significant known determinant of human intelligence, how specific genes affect intelligence remains largely unknown. A multi-institution team led by a University of Utah (U of U) USTAR researcher has found that the brain gene STX1A plays a significant role in the level of intelligence displayed by patients with Williams Syndrome (WS). The study may have implications for the understanding of intelligence and treatment of neurological disease in the general population.
加州大学洛杉矶分校的研究者, 雪松西奈医疗中心, 索尔克研究所, and the U of U found that variations in the expression of STX1A could account for 15.6 percent of cognitive variation in a group of 65 WS patients, a very high level of confidence in comparison to prior genetic studies. STX1A is involved in the electrochemical processes that occur at the brain’s synapses.
该研究小组由朱莉·R. Korenberg, Ph值.D., M.D., Brain Institute USTAR investigator and professor of pediatrics at the U of U School of Medicine. 该团队于4月21日发表了这项研究, 2010, in the 开放获取 / online scientific jounal PLoS ONE.
The study describes a new approach in determining the relationship between gene expression and intelligence in patients with WS, a neurodevelopmental disorder caused by the deletion of only two dozen genes from chromosome 7, 这是近30人中的一小部分,在人类中发现了000个基因. WS patients have one less copy each of the genes in question than does the general population.
WS patients typically exhibit an IQ of 60, compared to an average of 100 for the general population. WS患者往往具有高度的语言和社交能力, 但对数字有困难, 视觉空间感知和记忆.
“威廉姆斯综合症患者缺少一个非常, 非常少的遗传物质,科伦伯格说. “在几乎所有其他方面, 他们的构成和一般人一样, so we knew to take a very close look at a small number of genes. 大发娱乐分析了10种不同的基因, 但数据说明了一切, and STX1A clearly stood out in relation to the different patients’ intelligence levels,科伦伯格说.
STX1A has a fundamental role in the brain’s neurotransmission machinery. It supports the process by which electrical signals speed from one neuron to the next. “In terms of the brain, we’re talking about a basic utility when we look at STX1A,科伦伯格说.
The study points the way to further research that may have long-range benefits for WS patients as well as the general population. “This study shows in part how Nature’s hand shapes intelligence at the synapse. Monitoring gene expression may provide unique insights into the neurobiology and genetics of intelligence in WS subjects and possibly the general population,科伦伯格说.
Korenberg suggested there may be pharmaceutical treatments in the future that could help enhance synaptic function. “New studies could suggest ways to help people whose brain function is lacking, 比如威廉姆斯综合症, 或者是大脑功能正在丧失的人, 比如阿尔茨海默病,”她说。.
The research team overcame obstacles with some creative problem solving, Korenberg said. Since brain cells from live patients were unavailable for study, lymphoblastoid cells from the lymph system grown in culture provided the genetic material to analyze.
除了, the researchers developed a more precise measure of WS intelligence test data, using a technique called Principal Component Analysis (PCA). In comparison to standardized IQ tests best suited for the general population, the PCA approach was able to better represent a baseline pattern of intelligence in WS patients. The WS baseline adjusted for relative strengths and weaknesses in the study group, and was able to illuminate the impact of specific genes like STX1A more accurately.
PLoS ONE是同行评议的, 开放获取, online scientific journal published by Public Library of Science. 论文全文, 威廉姆斯综合征的智力与STX1A有关, which encodes a component of the presynaptic SNARE complex,网址是http://tinyurl.com/237fdvp.
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关于大脑研究所
The Brain Institute was founded in 2005 to be a coordinating center for neuroscience research in Utah. 现有教职工140人，来自35个院系, the Brain Institute is a bona fide interdisciplinary organization in which the whole is much more than the sum of its parts. The primary mission of the Brain Institute is to cultivate collaborations between neuroscientists, 工程师, physicians and community partners to accelerate brain research, and to translate research findings into new treatments for individuals suffering from neurological diseases, 神经精神障碍, 中枢神经系统损伤.
关于优
The Utah Science Technology and 研究 initiative (USTAR) is a long-term, state-funded investment to strengthen Utah's "knowledge economy” and generate high-paying jobs. Funded in March 2006 by the State Legislature, USTAR is based on three program areas. The first area involves funding for strategic investments at the University of Utah and Utah State University to recruit world-class researchers. The second area is to build state-of-the-art interdisciplinary facilities at these institutions for the 创新 teams. The third program area involves teams that work with companies and entrepreneurs across the State to promote science, 创新, 以及商业化活动. 欲了解更多信息，请访问www.创新utah.Com或关注http://twitter.com/Innovationutah.