NATURE OF OXPHOS DISEASE

OXPHOS 病的性质

• 批准号: 6263579
• 负责人: DOUGLAS WALLACE
• 金额: $ 3.88万
• 依托单位: EMORY UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6263579
• 关键词: Epstein Barr virus; cell bank /registry; cell line; cell transformation; clinical research; human genetic material tag; human subject; human tissue; lymphoblast; metabolism disorder; molecular genetics; molecular pathology; muscle metabolism; phenotype; striated muscles

The specific aims of this proposal are to identify additional mitochondrial disease patients, characterize their phenotypes, define the oxphos and ROS defects in skeletal muscle, and perform molecular genetic analysis to define the molecular basis of the defects. No research subjects have yet been admitted to the GCRC. However, the Molecular Cell Biology Laboratory was used to transform and store immortal Epstein-Barr virus lymphoblast cell lines from patient samples sent directly to the lab. The cell lines will serve as a permanent DNA/RNA resource, as well as an in vitro model system for molecular genetics investigations.

该提案的具体目标是确定其他线粒体疾病患者，表征其表型，定义骨骼肌中的oxphos和ROS缺陷，并进行分子遗传分析以定义缺陷的分子基础。 GCRC尚未接纳任何研究对象。 然而，分子细胞生物学实验室被用来转化和储存直接送到实验室的患者样本中的永生EB病毒淋巴母细胞系。 这些细胞系将作为永久的DNA/RNA资源，以及分子遗传学研究的体外模型系统。