New pathophysiological concepts and potential therapeutic targets for oxidative phosphorylation disorders

Mitochondria are the power stations of a cell. The function of mitochondria can become disturbed by genetic defects in cell nucleus or mitochondrial DNA. These lead to a wide range of syndromes in which mainly brains, liver tissue and muscle tissue are affected. To find out which disease processes are activated by their genetic defect, this PhD research developed a series of model systems, using cells or tissue from patients. The identified processes may be interesting for therapy. The current technological progress leads to a quicker increase of newly developed variants in both cell nucleus and mitochondrial DNA. Therefore, an analysis was made of the normal variant in the mitochondrial DNA of a large population that can improve the classification of new disease-causing variants.