title: Mutations of mitochondrial DNA and human death.
abstract: In the skeletal muscle of patients with mitochondrial myopathies (Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia) and in the heart and skeletal muscle of healthy persons cells lacking cytochrome c oxidase are found. The respiratory-defective cells have the following features in common: onset of the defect at juvenile or adult age; progressive character of the defect with increasing age; and focal pattern of respiratory-deficient cells (fibers). A statistic mutation of mtDNA in affected cells is suggested to cause the defect of mitochondrial function. It is postulated that the continuous accumulation of respiratory-deficient cells, mainly in the human heart with increasing age, will finally limit the life-span of each human individual.
authors.affiliation: Fachbereich Chemie der Universität, Marburg.
authors.forename: B
authors.initials: B
authors.lastname: Kadenbach
authors.forename: J
authors.initials: J
authors.lastname: Müller-Höcker
mesh_terms: D000818:Animals; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000235:genetics*; D003643:Death; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D008322:Mammals; D008929:Mitochondria, Heart / Q000201:enzymology; D008931:Mitochondria, Muscle / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D012016:Reference Values
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV