Mitochondrial diseases

Mitochondrial diseases are a vast and heterogeneous group of rare disorders that collectively affect at least 1 in 5,000 individuals and are characterized by mitochondrial dysfunction caused by genetic alterations. As a consequence of the bi-genomic control of oxidative phosphorylation (OXPHOS), mitochondrial diseases may be due to mutations of the mtDNA or nuclear genes (n>200). The main metabolic consequences of OXPHOS impairment include accumulation of metabolic intermediates, increased generation of reactive oxygen species (ROS), and decreased energy production. As a consequence, high-energy demand tissues such as muscle, brain and liver can be affected by the energy deficiency, with resulting multi-organ disease. The multi-systemic nature of mitochondrial diseases makes molecular diagnosis difficult, as many different medical specialties are involved and many physicians are discouraged by the complex phenotypes. On the other hand, its very multi-systemic nature aids in raising suspicion for the diagnosis of a mitochondrial disease. A nationwide clinical network for the recruitment and standardized phenotyping of patients with mitochondrial disorders ( has been established to study disease natural history, to establish national biorepositories and optimize diagnostics (



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