6533b7d2fe1ef96bd125ed7b
RESEARCH PRODUCT
Mutations of mitochondrial DNA and human death.
Bernhard KadenbachJosef Müller-höckersubject
Mitochondrial DNAmedicine.medical_specialtyCytochrome-c Oxidase DeficiencyMitochondrionBiologyHuman mitochondrial geneticsDNA MitochondrialMitochondria HeartKearns–Sayre syndromeElectron Transport Complex IVMitochondrial myopathyMuscular DiseasesReference ValuesInternal medicinemedicineAnimalsHumansEcology Evolution Behavior and SystematicsGeneticsMammalsHomoplasmySkeletal muscleGeneral Medicinemedicine.diseaseMitochondria MuscleDeathEndocrinologymedicine.anatomical_structureMutationChronic progressive external ophthalmoplegiadescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1990-05-01 | Die Naturwissenschaften |