Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the skeletal muscle of a patient with bilateral ptosis suggestive of progressive external ophthalmoplegia (PEO), but without ragged red fibres, electron microscopy revealed a moderate proliferation of mitochondria in nearly all fibres. A focal absence of cytochrome c oxidase and of mitochondrial ATPase was demonstrated histochemically in 3.2% and 1.4% respectively of the fibres. In 0.9% of the fibres both enzymes were deficient. In addition, mitochondrial ATPase, the ATP-synthesizing enzyme latent in controls, showed activation already before addition of an uncoupler. This indicates loosely coupled oxidative phosphorylation. The findings point to a complex derangement of mitochondrial function. Immunocytochemistry of cytochrome c oxidase favours the assumption that the defect is based on a highly diminished content of immunoreactive enzyme protein.
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PMID:Focal deficiency of cytochrome c oxidase and of mitochondrial ATPase with histochemical evidence of loosely coupled oxidative phosphorylation in a mitochondrial myopathy of a patient with bilateral ptosis. An enzyme histochemical, immunocytochemical and fine structural study. 298 41