ASSESSING NEURAL MECHANISMS OF INJURY IN INBORN ERRORS OF METABOLISM

评估先天性代谢缺陷损伤的神经机制

• 批准号: 7719038
• 负责人: Andrea Lynne Gropman
• 金额: $ 0.43万
• 依托单位: GEORGETOWN UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-04-01 至 2009-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7719038
• 关键词: Address; Affect; Arts; Behavior; Biochemical; Biochemical Markers; Biochemistry; Biological Markers; Brain; Carbohydrates; Caring; Cognition; Cognitive; Complement; Computer Retrieval of Information on Scientific Projects Database; Defect; Disease; Fatty acid glycerol esters; Functional disorder; Funding; Genes; Grant; Image; Impaired cognition; Inborn Errors of Metabolism; Inborn Genetic Diseases; Individual; Injury; Institution; Investigation; Metabolic Diseases; Metabolism; Methods; Molecular; Monitor; Motor; Process; Proteins; Research; Research Personnel; Resources; Source; Study models; Symptoms; United States National Institutes of Health; Universities; base; motor deficit; neurochemistry; neuroimaging; neuromechanism; relating to nervous system; response

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. Despite treatment, cognitive and motor deficits are common in individuals with inherited disorders of metabolism that affect processing of proteins, carbohydrates, and fats. However, the extent to which the deficits involve specific cognitive or sensorimotor domains is unknown. Furthermore, little is known about the neurochemical basis of cognitive impairment in these disorders. This project will investigate cognitive and motor dysfunction in inborn errors of metabolism utilizing state of the art neuroimaging to examine the underlying neural basis that may elucidate these defects. In particular, this study will address differences in cognition and biochemistry in individuals personally affected with inborn errors of metabolism, as well as heterozygous carriers of the disease, who may or may not manifest symptoms, depending upon the mechanism of inheritance. This study will be performed in the Neuroimaging center at Georgetown University, and GCRC . Imaging studies will be complemented with molecular and biochemical parameters. Such methods of investigation may serve as a model for studying the relationship between genes, biochemical markers, brain function, and behavior in metabolic diseases. The results of this study should help to optimize the care and/or treatment of individuals with inborn errors of metabolism, and serve to identify biomarkers of disease which can be used to monitor response to therapies.

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。子项目及 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。 尽管进行了治疗，认知和运动缺陷在患有影响蛋白质、碳水化合物和脂肪加工的遗传性代谢紊乱的个体中很常见。 然而，缺陷涉及特定认知或感觉运动领域的程度尚不清楚。 此外，人们对这些疾病中认知障碍的神经化学基础知之甚少。 该项目将利用最先进的神经影像学来研究先天性代谢缺陷中的认知和运动功能障碍，以检查可能阐明这些缺陷的潜在神经基础。特别是，这项研究将解决患有先天性代谢缺陷的个人以及该疾病的杂合携带者在认知和生物化学方面的差异，他们可能会或可能不会表现出症状，具体取决于遗传机制。 这项研究将在乔治城大学神经影像中心和 GCRC 进行。 影像学研究将得到分子和生化参数的补充。 这种研究方法可以作为研究代谢疾病中基因、生化标志物、大脑功能和行为之间关系的模型。这项研究的结果应有助于优化患有先天性代谢缺陷的个体的护理和/或治疗，并有助于识别可用于监测治疗反应的疾病生物标志物。