Mitochondrial disorders. A diagnostic challenge in clinical chemistry

Mitochondria play a pivotal role in cellular metabolism and in energy produ ction in particular. Defects in structure or function of mitochondria, main ly involving the oxidative phosphorylation (OXPHOS), mitochondrial biogenes is and other metabolic pathways, have been shown to be associated with a wi de spectrum of clinical phenotypes. The ubiquitous nature of mitochondria a nd their unique genetic features contribute to the clinical, biochemical an d genetic heterogeneity of mitochondrial diseases. We will focus on the rec ent advances in the field of mitochondrial disorders and their consequences for an advanced clinical and genetic diagnostics. In addition, an overview on recently identified genetic defects and their pathogenic molecular mech anisms will be given.