Inborn and induced defects of mitochondria.
Mitochondria play a pivotal role in cellular metabolism and in energy production in particular. Predictably, defects of mitochondrial metabolism have a deleterious effect on cell function and survival, especially in highly energy-dependent tissues such as brain and skeletal muscle. Although a multitude of biochemical reactions occur within mitochondria, the oxidative phosphorylation (OXPHOS) system is the most important in terms of adenosine triphosphate generation and in its association with human disease.
University Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, Institute of Neurology, London, England.
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Schapira
D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism*; D004579:Electron Transport / Q000235:genetics; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008928:Mitochondria / Q000378:metabolism*; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000209:etiology; D010085:Oxidative Phosphorylation
D004272:DNA, Mitochondrial