Mutations of mitochondrial DNA and human death
- 1 May 1990
- journal article
- review article
- Published by Springer Nature in The Science of Nature
- Vol. 77 (5), 221-225
- https://doi.org/10.1007/bf01138485
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.Keywords
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