TRANSLATIONAL RESEARCH IN PRADER-WILLI SYNDROME AND OBESITY - PART I

普瑞德威利综合征和肥胖的转化研究 - 第一部分

• 批准号: 7605439
• 负责人: Daniel J Driscoll
• 金额: $ 4.34万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-12-23 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7605439
• 关键词: Behavioral; Biochemical; Biochemical Markers; Child; Chromosomes; Clinic; Clinical; Complex; Computer Retrieval of Information on Scientific Projects Database; Developmental Delay Disorders; Disease; Failure to Thrive; Funding; Genes; Genetic; Grant; Hyperphagia; Impaired cognition; Individual; Institution; Lead; Localized; Morbid Obesity; Muscle hypotonia; Mutation; Neonatal; Neurotransmitters; Numbers; Obesity; Phenotype; Prader-Willi Syndrome; Psychometrics; Research; Research Personnel; Resources; Source; Syndrome; Testing; Translational Research; United States National Institutes of Health; early onset; neurobehavioral

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. The Prader-Willi syndrome (PWS) is a complex neurobehavioral syndrome whose main clinical features include obesity, hyperphagia, hypotonia, cognitive impairment, a distinct behavioral phenotype and neonatal failure-to thrive. This syndrome is the most commonly recognized genetic cause of obesity. The genetic defect has been localized to a 2 megabase region of chromosome 15q11-q13. It is a contiguous gene syndrome with the loss of expression of several genes resulting in the complete phenotype. It is postulated that a loss of expression of one gene in this region may lead to some, but not all the features of PWS (i.e., "PWS-like"). For the last 10 years we have had referred to our Genetics clinics a number of morbidly obese children to evaluate for PWS. A number of these children clinically and molecularly do not have PWS, but we have noted that they all seem to have some degree of cognitive impairment and that they have other similarities with PWS (i.e., PWSlike). Thus we have hypothesized that there is a relationship between early onset morbid obesity and cognitive impairment. The developmental delay may be due to harmful effects of various neurotransmitters or other biochemical markers such as seen in various neonatal biochemical diseases such as phenylketonuria (PKU). Thus we would like to document and quantify the degree and types of cognitive impairment in PWS and PWS-like individuals by the use of psychometric testing as well as assess various biochemical parameters including neurotransmitters. In addition, we intend to correlate various biochemical parameters between the PWS and PWS-like individuals as well as the degree of cognitive impairment.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 普瑞德-威利综合征（PWS）是一种复杂的神经行为综合征，其主要临床特征包括肥胖、食欲过盛、肌张力低下、认知障碍、独特的行为表型和新生儿发育不良。 这种综合征是最常见的肥胖遗传原因。该遗传缺陷位于染色体 15q11-q13 的 2 兆碱基区域。它是一种连续基因综合征，多个基因表达缺失，导致完整表型。据推测，该区域的一个基因表达缺失可能会导致 PWS 的一些特征，但不是全部特征（即“PWS 样”）。在过去的 10 年里，我们已将一些病态肥胖儿童转介到我们的遗传学诊所进行 PWS 评估。这些儿童中的许多在临床和分子水平上并没有 PWS，但我们注意到他们似乎都有一定程度的认知障碍，并且他们与 PWS 具有其他相似之处（即类似 PWS）。 因此，我们假设早发病态肥胖与认知障碍之间存在关系。发育迟缓可能是由于各种神经递质或其他生化标志物的有害影响造成的，例如苯丙酮尿症 (PKU) 等各种新生儿生化疾病中所见的情况。因此，我们希望通过使用心理测试来记录和量化 PWS 和 PWS 类个体的认知障碍程度和类型，并评估包括神经递质在内的各种生化参数。此外，我们打算将 PWS 和 PWS 样个体之间的各种生化参数以及认知障碍程度关联起来。