A morphometric study of muscle mitochondria in cytochrome c oxidase deficiency

Quantitative analysis of mitochondrial size and its percentage of total fibre volume in different muscle fibre types was performed on biceps brachii muscles of controls aged from 9 months to 10 years, and patients aged from 8 months to 14 years, with cytochrome c oxidase (CCO) deficiency confirmed by both histochemical and biochemical analyses. The disease was classified into 2 subgroups: one not containing ragged-red fibres (RRF) (group I), and one containing RRF (group II). Relationship between type 1 and 2 fibres in mitochondrial size and percentages of total fibre volume showed significant differences in the controls and group I. A comparison of the controls and group I did not show significant differences in mitochondrial size, but abnormally enlarged mitochondria were occasionally observed in the latter. In group I, statistical differences were observed in mitochondrial percentage of total fibre volume, though these differences remained in the control range, suggesting the presence of mild morphological changes in mitochondria on electron microscopy. In group II, mitochondrial size and its percentage of total fibre volume were markedly increased in both type 1 and 2 fibres, with no statistical differences observed between the 2 fibre types.