Analytical Neurochemistry: Core D

(分析神经化学和核心数据(ANC)：数据核心数据) 项目总结 描述：分析神经化学核心(ANC)支持以下服务：(A)氨基定量 酸和生物胺；(B)使用稳定同位素 示踪剂和质谱学，以测量同位素富集度；(C)定性和定量质量 蛋白质/多肽及其修饰的光谱分析；和(D)生物能量分析 线粒体功能。分析是：(A)在体外；(B)在临床前的智力和 (C)在活体内，在人类患者中。用户可以访问广泛的曲目 分析服务，以及关于实验设计和数据解释的专家咨询。这个 核心强调质量控制的方方面面，包括保证研究有足够的动力和 控制得当。在可行的情况下，以盲目的方式进行分析。 与IDDRC使命的相关性：我们中心的总体主题是--“基因、大脑和行为”。初级阶段 ANC的焦点是“脑”，即由基因突变和变异引起的神经化学变化。 这些神经化学异常可能导致临床上的行为异常。 碘缺乏病的表现。ANC使用户能够识别和量化大脑生物化学的变化。是这样的 信息加深了对IDD的了解，并提供了衡量IDD的生物标志物的发展 治疗性干预的有效性。 资格：这些服务既向位于CHOP/UPenn的IDDRC的批准用户提供，也向位于 网络中的其他中心。

(ANALYTICAL NEUROCHEMISTRY CORE (ANC): CORE D)  PROJECT SUMMARY Description: The Analytical Neurochemistry Core (ANC) supports these services: (a) Quantitation of amino acids and biogenic amines; (b) Kinetic studies of flux through metabolic pathways using stable isotopes as tracers and mass spectrometry to measure isotopic enrichment; (c) Qualitative and quantitative mass spectroscopic analyses of proteins/peptides and their modifications; and (d) Bioenergetic assays of mitochondrial function. Analyses are performed: (a) In vitro; (b) In pre-clinical animal models of intellectual and developmental disabilities (IDD); and (c) In vivo, in human patients. Users have access to a broad repertoire of analytical services, as well as expert advice with regard to experimental design and data interpretation. The core emphasizes all aspects of quality control, including assurance that studies are adequately powered and properly controlled. When feasible, analyses are performed in a blinded fashion. Relevance to IDDRC Mission: The overall theme of our Center is – “Genes, Brain and Behavior”. The primary focus of the ANC is “Brain”, or the neurochemical changes which result from gene mutation and variation. These neurochemical aberrations may contribute to the behavioral anomalies that become clinical manifestations of IDD. The ANC enables users to identify and quantify changes in brain biochemistry. Such information deepens understanding of the IDD and affords development of biomarkers with which to gauge the efficacy of therapeutic interventions. Eligibility: These services are available both to approved users of the IDDRC at CHOP/UPenn and to users at other Centers in the Network.