This review is devoted to the molecular genetics and bioenergetics of human mitochondria
related to the mechanism of aging. Morphological and functional changes of mitochondria …

This paper reviews the current state of knowledge of the contribution of mitochondrial DNA
(mtDNA) mutations to the phenotype of aging. Its major focus is on the discovery of deletions …

Using PCR, we found that normal heart muscle and brain from adult human individuals
contain low levels of a specific mitochondrial DNA deletion, previously found only in patients …

We studied two related infants with a fatal mitochondrial disease, affecting muscle in one
and liver in the other. Quantitative analysis revealed a severe depletion of mtDNA in affected …

Cytochromec oxidase (complex IV of the respiratory chain) was studied histochemically in
human limb muscle (n= 109) and diaphragm (n= 115) obtained at autopsy revealing …

Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) has
recently been associated with an A----G transition at position 3243 within the mitochondrial …

The patterns of mitochondrial genomesize variation were investigated in endothermic and
ectothermic species to examine the role that thermal habit might play in the evolution of …

Genetic eye diseases affect around one in 1000 people worldwide for which the molecular
aetiology remains unknown in the majority. The identification of disease-causing gene …

Previous studies have revealed an increase of cytochrome c oxidase-deficient fibres/cells in
the skeletal and heart muscle of humans during ageing. The enzyme defect is due to a lack …

Skeletal muscle specimens from three patients with inclusion body myositis, aged 39, 60
and 71 years, respectively, were investigated. Enzyme histochemical staining of cytochrome …