Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of mitochondrial enzymopathy, called also ophthalmoplegia plus, was observed in a 31-year-old man. Histoenzymatic investigations demonstrated in the myocytes decreased and irregularity of reactions for succinic dehydrogenase, tetrazole reductase and mitochondrial ATPase. In electron microscopy paracrystalline structures, lamellar bodies and concentrically condensed cristae were seen in the mitochondria, and increased glycogen stores outside the mitochondria.
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PMID:[A case of mitochondrial enzymopathy]. 297 67

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

We showed that humanin (HN), an endogenous peptide against Alzheimer disease-related insults, was expressed in muscles of patients with chronic progressive external ophthalmoplegia (CPEO), a major mitochondrial disease. Because HN was recently found to block proapoptotic Bax function and exert its versatile cytoprotective effects in association with an increase in ATP levels, HN expression may thus reflect a physiological response against degenerative changes in the muscles of patients with CPEO. We found HN expression in all four patients examined, each of whom had different mitochondrial DNA mutations including two different single DNA deletions, multiple deletions, and no major mutations detected. We also found that HN expression was not linked to focal cytochrome c deficiency, strongly associated with the subtype of CPEO with single deletions. These results suggest that HN expression is more closely related to degenerative changes in all types of CPEO. Notably, HN was also expressed in non-degenerative muscle fibers of patients with CPEO or Leigh syndrome, who had the 8993T>G mutation in the mitochondrial ATPase 6 gene known to be associated with impaired ATP synthesis. Collectively, our findings suggest that HN may be specifically expressed in response to defects in energy production in muscles with mitochondrial abnormalities.
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PMID:Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. 1663 4