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)

The pathological significance of ragged-red fibres is uncertain. We have studied ragged-red fibres in the muscle biopsies of 3 adults; one with polymyositis and two with progressive external ophthalmoplegia. All the ragged-red fibres were Type 1 fibres. In two patients the mean diameter of the ragged-red fibres was significantly smaller than the unaffected Type 1 fibres. Some of these fibres showed features of regeneration, and others of degeneration. In the patient with polymyositis the mitochondria were proliferated and contained osmiophilic dense bodies; in the other two patients paracrystalline mitochondrial inclusions were prominent. These findings suggest that ragged-red fibres do not represent a single pathological process.
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PMID:The significance of ragged-red fibres in neuromuscular disease. 73 Dec 62

The case of a young woman with giant cell polymyositis is described. She had bilateral, severe, midly painful proptosis and ophthalmoplegia. Extensive pharyngeal, laryngeal, and cardiac muscle involvement occurred 18 months later coincident with fatal cardiac arrhythmia. At autopsy, extensive muscle necrosis and giant cells were noted in extraocular, pharyngeal, laryngeal, and cardiac muscle with only minimal involvement of other striated muscles.
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PMID:Bilateral orbital involvement in fatal giant cell polymyositis. 232 30

This study describes mitochondrial cytochemistry with reference to cytochrome c oxidase and NADH oxidase activities as well as calcium localization at subcellular level in a variety of human mitochondrial disorders. The enzyme activities, calcium homeostasis, and myofibrillary architecture were retained in the lipid storage myopathies with carnitine and carnitine palmityl transferase deficiency. The loss of enzyme reaction, excessive Ca++ deposit, and myonecrosis were the features of the group comprised of a variety of disorders with mitochondrial pathology (Kearns-Sayre's syndrome, chronic progressive ophthalmoplegia, polymyositis, neurogenic atrophy, and fascioscapulo humeral dystrophy). Based on these and our previous experimental study (Shah et al., 1985), we suggest that the human mitochondrial disorders may be grouped into two types: one in which the morphologically altered mitochondria retain the enzyme activities and Ca++ homeostasis and the other in which the altered mitochondria associated with muscle necrosis represent the loss/reduction of the enzyme activities as well as Ca++ homeostasis.
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PMID:Variability of mitochondrial cytochemistry in human neuromuscular diseases. 339 68

Over the past 13 years at VGH-Taipei, five cases were morphologically defined as having mitochondrial disease and clinically presented with syndromes other than chronic progressive external ophthalmoplegia. There were two cases presenting with dementia, extensive and symmetrical intracerebral calcification but no clinical and other laboratory evidence of skeletal muscle affection; one case with MERRF syndrome; one case with congenital myopathy and cardiomyopathy; and one case with prednisolone-responsive and polymyositis-like myopathy. The following comments are made: 1. The inexplicably lower incidence of encephalopathy group might result from inadequate alertness of clinicians. 2. The clinical classification might have some clinical convenience, but, identification of defects at the DAN level and determination of the phenotypic expression with clinical, morphologic and biochemical methods are fundamental for future rational diagnosis and classification of mitochondrial diseases.
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PMID:Mitochondrial disease with encephalopathy or limb girdle myopathy: a report of five cases. 817 14

In muscle, the neural cell adhesion molecule (NCAM) is known to be expressed in denervated and regenerating fibers. Our present study, performed with immunohistochemical detection procedures, attempts to demonstrate the expression of NCAM in mitochondrial myopathy. Biopsy specimens from 29 patients were investigated. The following conditions were represented: nonweak control subjects (8 cases), chronic progressive external ophthalmoplegia (7 cases), Kearns-Sayre syndrome (5 cases), unclassified mitochondrial myopathy (2 cases), idiopathic polymyositis (7 cases). We demonstrate the expression of NCAM in mitochondrial myopathy. But NCAM is expressed in ragged-red fibers both in mitochondrial and idiopathic inflammatory myopathy. Furthermore, NCAM-immunoreactive fibers are more abundant than ragged-red and cytochrome-c-deficient fibers. Thus, we conclude that NCAM expression precedes histochemical and enzyme-histochemical demonstrable mitochondrial abnormalities. NCAM expression may reflect compensatory regenerating tendency of ragged-red fibers. Vimentin expression in mitochondrial myopathy favors this view. Probably, NCAM plays a role in the enrichment of abnormal mitochondria as a compensatory process for the biochemical deficit. The expression of NCAM in mitochondrial myopathies suggests that NCAM is related to the pathophysiology of these diseases and can be a helpful clue in the diagnosis of mitochondrial myopathy. But NCAM expression is not a specific phenomenon in mitochondrial myopathy, because in secondary mitochondrial changes like in idiopathic polymyositis NCAM expression is observed, too.
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PMID:Expression of NCAM (neural cell adhesion molecule) in mitochondrial myopathy. 860 39

To estimate the oxidative damage to skeletal muscle DNA in mitochondrial encephalomyopathies, we studied the amount of 8-hydroxy-deoxyguanosine (8-OH-dG) and the localization of superoxide dismutase (SOD) in the skeletal muscles of patients with progressive external ophthalmoplegia (PEO) or Kearns-Sayre syndrome (KSS). The molar ratio of 8-OH-dG/deoxyguanosine in skeletal muscle from PEO or KSS patients was significantly higher than the control value. The ratio from patients with polymyositis or Duchenne's muscular dystrophy was not significantly elevated. Immunohistochemical staining for both Mn-SOD and Cu,Zn-SOD showed pronounced staining in the subsarcolemmal and intermyofibrillar regions of cytochrome-oxidase-negative ragged red fibers of KSS or PEO muscles. Our findings suggest that overproduction of 8-OH-dG and mitochondrial dysfunction with gene deletions are associated with each other in muscle cells of patients with PEO or KSS, and that free radicals may play an important role in the pathophysiology of mitochondrial encephalomyopathies.
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PMID:Oxidative damage to skeletal muscle DNA from patients with mitochondrial encephalomyopathies. 883 81

To determine the relationship between myoglobin (Mb) and the defense system against reactive oxygen species in various myopathies, we performed immunohistochemical analyses of Mb and various antioxidant enzymes, including manganese superoxide dismutase (Mn-SOD), copper zinc SOD (CuZn-SOD), catalase (CAT), and glutathione peroxidase (GSH-Px). Biopsied muscle specimens were obtained from patients with chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), Duchenne muscular dystrophy (DMD), and polymyositis (PM). In patients with CPEO/KSS, stainings of Mb, SOD, CAT, and GSH-Px in nonatrophic ragged-red fibers (RRFs) were more intense than those in non-RRFs. These pronounced stainings corresponded to ragged-red lesions. The staining intensities of these antioxidant enzymes were significantly correlated with that of Mb (P < 0.001). Atrophic RRFs in specimens from patients with CPEO/KSS showed intense stainings of these antioxidant enzymes but not intense staining of Mb. In specimens from patients with DMD/PM, the antioxidant enzymes but not Mb were overexpressed in degenerative fibers. These results suggest that oxidative stress is associated with Mb expression specifically in mitochondrial diseases. The antioxidant enzymes seem to be upregulated to protect against muscle damage in nonatrophic RRFs. However, the Mb-mediated oxidative damage may become more extensive and result in further mitochondrial dysfunction and progressive atrophy of RRF with impaired upregulation of Mb.
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PMID:Overexpressions of myoglobin and antioxidant enzymes in ragged-red fibers of skeletal muscle from patients with mitochondrial encephalomyopathy. 1450 21