NATURE OF OXPHOS DISEASE

这项建议的具体目的是识别更多的线粒体疾病患者，表征他们的表型，确定骨骼肌中的OXPHOS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GCRC录取。然而，分子细胞生物学实验室被用来转化和存储来自患者样本的不朽的EB病毒淋巴母细胞系，直接送到实验室。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.