CENTER FOR RESEARCH IN MENTAL RETARDATION

这项申请是为了继续支持行政和 BF Stolinsky实验室精神发育迟滞研究核心 科罗拉多大学健康科学中心的研究中心。 该MRRC于1968年开始运营，其名称和大部分 研究人员和核心最近搬到了一个新的更大的设施上 南加州大学校园。十名调查人员利用这项研究 核心对精神发育迟滞和发育有很大影响 残疾人士。这项工作的大部分是关于中枢神经遗传性病因的 系统功能障碍，主要集中在先天的代谢错误 特别是线粒体的紊乱。大量的努力也是 针对MRDD的环境原因，包括痕量金属 缺陷和病毒感染，以及这些情况是如何影响的 认知发展。 中枢神经系统遗传性代谢病因的研究进展 功能障碍集中在戊二酸血症I和II(Goodman&Frerman)， 胱硫醚-β-合酶缺乏症(Kraus)和 线粒体呼吸链(Frerman，Howell，Parker)；主要目的 这些研究的目的是为了更好地了解发病机制，以便努力 治疗可以有更符合逻辑的基础。环境致病因素研究 MRDD检查婴儿期和妊娠期缺锌的影响 和新生儿潜伏期病毒感染(CRNIC) 随后的认知。其他研究主要集中在神经心理学方面。 发育性学习障碍，特别是阅读障碍，注意力 缺陷多动障碍和自闭症(彭宁顿)； 脆性X综合征(Hagerman)；神经元发育的早期事件 人类中枢神经系统(Pfenninger)；与钠有关的神经肌肉缺陷 频道(考德威尔)。 寻求支持的核心设施包括：(A)行政管理； (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/质谱学，(E)发育 神经心理学，(F)动物收容所和评估，(G)仪器 维护和(H)玻璃器皿清洗服务。核心(C)对此是新的 申请。

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.