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.
Schapira
A H
AH
University Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, Institute of Neurology, London, England.
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