CENTER GRANT FOR RESEARCH IN MENTAL RETARDATION

此应用程序是为精神的持续核心支持 B的智障研究中心。F.斯托林斯基研究所 科罗拉多大学健康科学实验室 中心 Stolinsky实验室和智力迟钝 研究中心成立于1968年，现在有六个 主要研究人员，其研究对 智力迟钝和发育障碍。 大部分 该中心正在进行的研究是关于遗传原因的。 中枢神经系统功能障碍，主要集中在 线粒体功能的先天性缺陷，虽然实质上 我们的努力还集中在环境问题上，包括 营养缺乏和病毒感染，以及这些 条件对认知发展的影响。 中枢神经系统遗传代谢病因的研究 功能障碍集中在I型和II型葡萄糖酸血症，甘油 激酶缺乏症和线粒体呼吸系统疾病 链，这些研究的主要目的是更好地了解 发病机制，使努力治疗可以有一个更合乎逻辑的 基础 研究智力迟钝的环境原因， 发育障碍检查缺氧，锌的影响 缺乏在婴儿期和妊娠期，和潜伏的病毒 新生儿期的感染对随后的认知的影响。 更多的研究旨在确定 中枢神经系统参与各种先天性错误， 重组8综合征，一种新描述细胞遗传学 异常 寻求支助的核心设施包括行政、 细胞生物学（包括组织培养、分子生物学和 细胞遗传学），动物护理，质谱，发育 神经心理学和玻璃器皿清洗服务

This application is for continued core support of the Mental Retardation Research Center in the B. F. Stolinsky Research Laboratories at the University of Colorado Health Sciences Center. The Stolinsky Laboratories and the Mental Retardation Research Center were opened in 1968, and now houses six principal investigators whose research impacts substantially on mental retardation and developmental disabilities. Most of the research being carried out in this center is on inherited causes of central nervous system dysfunction, with a primary focus on inborn errors of mitochondrial function, although substantial effort is also focussed on environmental causes, including nutritional deficiency and viral infection, and at how these conditions impact on cognitive development. Studies on inherited metabolic causes of central nervous system dysfunction focus on glutaric acidemia types I and II, glycerol kinase deficiency, and disorders of the mitochondrial respiratory chain, the primary aim of these studies being to better understand pathogenesis, so that efforts to treat can have a more logical basis. Studies of environmental causes of mental retardation and developmental disability examine the impact of anoxia, zinc deficiency in infancy and during gestation, and latent viral infections in the newborn period on subsequent cognition. Additional studies are aimed at defining the precise nature of central nervous system involvement in various inborn errors and in the recombinant 8 syndrome, a newly described cytogenetic abnormality. Core facilities for which support is sought include administration, cell biology (including tissue culture, molecular biology, and cytogenetics), animal care, mass spectrometry, developmental neuropsychology, and glassware washing services.