CENTER FOR RESEARCH IN MENTAL RETARDATION

本申请是为了继续支持行政和 BF Stolinsky实验室精神发育迟滞的研究核心 科罗拉多大学健康科学中心研究中心。 该MRRC于1968年开始运营，其名称及其大部分 研究人员和核心最近搬到了一个新的和更大的设施， UCHSC校园 十位研究者的研究， 核心对智力迟钝和发展 残疾。 这方面的工作大部分是关于中枢神经系统疾病的遗传原因 系统功能障碍，主要集中在先天性代谢缺陷 特别是线粒体疾病。 大量的努力也 针对MRDD的环境原因，包括微量金属 缺陷和病毒感染，以及这些条件如何影响 认知发展 中枢神经系统遗传代谢病因的研究 功能障碍集中于I型和II型谷氨酸血症（Goodman和Frerman）， 胱硫醚β-合酶缺乏症（Kraus），以及 线粒体呼吸链（Frerman，豪厄尔，帕克）;主要目的 这些研究的目的是更好地了解发病机制， 治疗可以有一个更合理的基础。 环境原因研究 MRDD检查婴儿期和妊娠期锌缺乏的影响 （Hambidge）和新生儿期潜伏病毒感染（Crnic） 后续认知。 其他研究集中在神经心理学上， 发展性学习障碍，特别是诵读困难，注意力 缺陷多动障碍和自闭症（彭宁顿）; 脆性X染色体综合征（Hagerman）; 人CNS（Pfenninger）;和与钠相关的神经肌肉缺陷 渠道（考德威尔）。 寻求支助的核心设施包括：（a）行政， (b)细胞生物学（组织培养和分子生物学），（c）酶和 分子诊断，（d）化学/质谱，（e）发展 神经心理学，（f）动物饲养和评估，（g）仪器 保养及（h）玻璃器皿清洗服务。 核心（c）是新的 应用程序.

This application is for continued support of the administrative and research cores of the BF Stolinsky Laboratories Mental Retardation Research Center at the University of Colorado Health Sciences Center. This MRRC began its operations in 1968, and the name and most of its researchers and cores have recently moved to a new and larger facility on the UCHSC campus. The research of the ten investigators that utilize the cores impacts substantially on mental retardation and developmental disabilities. Most of this work is on inherited causes of central nervous system dysfunction, with a primary focus on inborn errors of metabolism and specifically on disorders of mitochondria. Substantial effort is also directed to environmental causes of MRDD, including trace metal deficiencies and viral infections, and to how these conditions affect cognitive development. Studies on inherited metabolic causes of central nervous system dysfunction focus on glutaric acidemia types I and II (Goodman & Frerman), cystathionine beta-synthase deficiency (Kraus), and disorders of the mitochondrial respiratory chain (Frerman, Howell, Parker); the primary aim of these studies is to better understand pathogenesis, so that efforts to treat can have a more logical basis. Studies of environmental causes of MRDD examine the impact of zinc deficiency in infancy and during gestation (Hambidge), and latent viral infections in the newborn period (Crnic) on subsequent cognition. Other studies focus on the neuropsychology of developmental learning disorders, in particular dyslexia, attention deficit hyperactivity disorder, and autism (Pennington); the phenotype of fragile-X syndrome (Hagerman); early events in neuronal development of the human CNS (Pfenninger); and neuromuscular defects related to sodium channels (Caldwell). Core facilities for which support is sought include (a) administration, (b) cell biology (tissue culture and molecular biology), (c) enzyme and molecular diagnosis, (d) chemistry/mass spectrometry, (e) developmental neuropsychology, (f) animal housing and assessment, (g) instrument maintenance and (h) glassware washing services. Core (c) is new to this application.