NATURE OF OXPHOS DISEASE

本提案的具体目的是识别其他线粒体疾病患者，表征其表型，确定骨骼肌中的氧化磷和ROS缺陷，并进行分子遗传学分析以确定缺陷的分子基础。目前还没有研究对象被纳入GCRC。然而，分子细胞生物学实验室被用来转化和储存从直接送到实验室的患者样本中获得的不朽的爱泼斯坦-巴尔病毒淋巴母细胞系。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。

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.