LYMPHOCYTIC TARGETS AND BEHAVIOR IN FRAGILE X

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。这项拟议的研究将调查FMRP的12个选定分子靶点的表达模式和神经行为相关性。FMRP是脆性X综合征(FRAX)中缺失的蛋白质。这项研究的重点是患有FRAX的男孩，特别是淋巴细胞样本的免疫化学和分子测量。对于分子-神经行为相关性，受试者将经历全面的行为特征，这最终将导致组装具有代表性的FRAX表型表现谱样本。这项研究打算研究100名患有FRAX的男性和20名正常对照；后者将作为分子测量的标准组。分子行为分析将只包括FRAX受试者。这项研究利用了根据#97-08-21-04(R01HD33175)方案收集的数据，对应于50名FRAX和10名对照受试者两年期间的血液样本和行为数据。目前，我们正在请求对47名FRAX受试者和10名对照的研究提供支持，因为我们已经评估了3名FRAX患者，而我们只批准了10名对照。我们假设，这项研究将证明FMRP的特定分子靶点有助于FRAX神经行为表型的特定方面(及其差异)。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This proposed research will investigate the patterns of exprssion and the neurobehavioral correlates of 12 selected molecular targets of FMRP, the protein that is deficient in Fragile X syndrome (FraX). The study focuses on boys with FraX, specifically on immunochemical and molecular measurements of lymphocyte samples. For the molecular-neurobehavioral correlations, the subjects will undergo a comprehensive behavioral characterization that will ultimately lead to the assembly of a representative sample of FraX's spectrum of phenmotypical manifestations. The investigation intends to study 100 males with FraX and 20 normal controls; the latter will serve as a normative group for the molecular measurements. Molecular-behavioral analyses will only include FraX subjects. This study takes advantage of data collected under protocol #97-08-21-04 (R01HD33175), corresponding to blood samples and behavioral data on 50 FraX and 10 control subjects over a period of two years. At present, we are requesting support for the study of 47 FraX subjects and 10 controls since we have already evaluated 3 FraX patients and we have IRB approval for only 10 controls. We hypothesize that this study will demonstrate that selected molecular targets of FMRP contribute to specific aspects (and their variance) of FraX's neurobehavioral phenotype.