Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

Four patients with mitochondrial abnormality had multiple muscle biopsies at several year intervals during which respiratory chain enzyme activities were shown to be quite variable. In three patients, progression of the disease paralleled the decrease in respiratory chain enzyme activity. In one pat...

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Bibliographic Details
Published in:Acta neuropathologica 1988-01, Vol.76 (2), p.135-141
Main Authors: KOGA, Y, NONAKA, I, SUNOHARA, N, YAMANAKA, R, KUMAGAI, K
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Child, Preschool
Cytochrome Reductases - metabolism
Cytochrome-c Oxidase Deficiency
Diseases of striated muscles. Neuromuscular diseases
Female
Humans
Medical sciences
Middle Aged
Mitochondria, Muscle - enzymology
Mitochondria, Muscle - pathology
Muscular Diseases - enzymology
Muscular Diseases - pathology
NADH Dehydrogenase - metabolism
Neurology
Oxidoreductases - metabolism
Succinate Cytochrome c Oxidoreductase - metabolism
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Summary:Four patients with mitochondrial abnormality had multiple muscle biopsies at several year intervals during which respiratory chain enzyme activities were shown to be quite variable. In three patients, progression of the disease paralleled the decrease in respiratory chain enzyme activity. In one patient, the clinical and pathological findings improved with age as is seen in the benign infantile form of cytochrome c oxidase (CCO) deficiency. The variability in these mitochondrial disorders may result from the varied proportions of normal and abnormal mitochondria in the muscle cells in which the mitochondria are said to be randomly replicated from numerous mitochondrial DNA copies.
ISSN:0001-6322
1432-0533
DOI:10.1007/BF00688097