CENTER GRANT 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。这 MRRC于1968年开始运作，其大部分调查人员和核心 现在被安置在南加州大学校园里一个新的更大的设施里。这个 所有利用岩心的调查人员的研究都会产生实质性的影响 关于精神发育迟滞和发育障碍。他们的大部分工作 是关于中枢神经系统功能障碍的遗传原因， 主要关注新陈代谢的先天错误，特别是疾病 线粒体。大量的努力也针对环境 引起MRDD的原因，包括微量金属缺乏和病毒感染， 以及这些情况如何影响神经心理过程和认知 发展。 中枢神经系统遗传(代谢)病因的研究 功能障碍集中在戊二酸血症I和II(Goodman&Frerman)， 胱硫醚β-合酶缺乏症(KRAUS)，丙酸血症 (Kraus)和唐氏综合症(Patterson&Gardiner))； 这些研究是为了更好地了解发病机制，以便努力 治疗可以有一个更有科学依据的理由。环境研究 MRRD的原因检查了婴儿期缺锌和 孕期(克雷布斯)和新生儿期的潜伏病毒感染 (CRNIC)对后续认知的影响。其他人则专注于发展(学习) 精神分裂症(Ross，Leonard)、阅读障碍、注意力障碍等障碍 缺陷多动障碍和自闭症(Rogers&Pennington，早期 人类中枢神经系统神经元发育的事件(Pfenninger)；以及 与钠通道有关的神经肌肉缺陷(考德威尔)。堆芯 寻求支持的设施包括：a)管理，b)牢房 生物学，c)化学/质谱学，e)大插入文库 筛选，f)发展神经心理学，g)动物住房和 评估；h)仪器维护和玻璃器皿清洗服务。 Core e)对此应用程序来说是新的。我们还提议与 贝勒医学院的MRRC，其中每个研究人员 研究所可以相互学习技术，在某些情况下， 利用彼此的核心。

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 most of its investigators and core are now housed in a new and larger facility on the UCHSC campus. The research of all investigators that utilize the cores impacts substantially on mental retardation and developmental disabilities. Most of their work is on heritable cause 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 how these conditions affect neuropsychological processes and cognitive development. Studies on genetic (metabolic) causes of central nervous system dysfunction focus on glutaric acidemia type I and II (Goodman & Frerman), cystathionine beta-synthase deficiency (Kraus), propionic acidemia (Kraus), and Down syndrome (Patterson & Gardiner)); the primary aim of these studies is to better understand pathogenesis, so that efforts to treat can have a more science-based rationale. Studies of environmental causes of MRRD examine the impact of zinc deficiency in infancy and gestation (Krebs), and of latent viral infections in the newborn period (Crnic) on subsequent cognition. Others focus on developmental (learning) disorders such as schizophrenia (Ross, Leonard), dyslexia, attention deficit hyperactivity disorder, and autism (Rogers & Pennington; 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, c) Chemistry/Mass Spectrometry, e) Large Insert Library Screening, f) Developmental Neuropsychology, g) Animal Housing and Assessment, and h) Instrument maintenance and Glassware Washing services. Core e) is new to this application. We also propose an association with the MRRC at Baylor College of Medicine, in which investigators at each institute can learn techniques from one another and, in some cases, utilize each others cores.