Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency
Clinical and biochemical data are reported for three patients with mitochondrial myopathy. One patient presented only with exercise-induced muscle weakness, whereas the other two showed signs of multisystem disease. Polarographic determination of oxygen uptake in skeletal muscle mitochondria suggest...
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| Veröffentlicht in: | The Lancet (British edition) 1988-03, Vol.1 (8584), p.500-503 |
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| creator | SCHAPIRA, A. H. V COOPER, J. M MORGAN-HUGHES, J. A PATEL, S. D CLEETER, M. J. W RAGAN, C. I CLARK, J. B |
| description | Clinical and biochemical data are reported for three patients with mitochondrial myopathy. One patient presented only with exercise-induced muscle weakness, whereas the other two showed signs of multisystem disease. Polarographic determination of oxygen uptake in skeletal muscle mitochondria suggested complex-I (nicotinamide adenine dinucleotide [reduced] ubiquinone oxidoreductase) deficiency. Sodium dodecyl sulphate polyacrylamide gel electrophoresis and immunoblotting with antibody to the holoenzyme of complex-I and specific antibodies to certain of the Fe-S subunits of complex-I showed a relatively normal profile in the least affected patient and a generalised reduction in the intensities of all crossreacting bands in the other two patients. The most severely affected patient also showed a disproportionate and pronounced reduction in the 24 K Fe-S subunit. Clinical severity of muscle involvement correlated with the biochemical deficiency as determined polarographically and with the immunoblot appearances. |
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H. V ; COOPER, J. M ; MORGAN-HUGHES, J. A ; PATEL, S. D ; CLEETER, M. J. W ; RAGAN, C. I ; CLARK, J. B</creator><creatorcontrib>SCHAPIRA, A. H. V ; COOPER, J. M ; MORGAN-HUGHES, J. A ; PATEL, S. D ; CLEETER, M. J. W ; RAGAN, C. I ; CLARK, J. B</creatorcontrib><description>Clinical and biochemical data are reported for three patients with mitochondrial myopathy. One patient presented only with exercise-induced muscle weakness, whereas the other two showed signs of multisystem disease. Polarographic determination of oxygen uptake in skeletal muscle mitochondria suggested complex-I (nicotinamide adenine dinucleotide [reduced] ubiquinone oxidoreductase) deficiency. Sodium dodecyl sulphate polyacrylamide gel electrophoresis and immunoblotting with antibody to the holoenzyme of complex-I and specific antibodies to certain of the Fe-S subunits of complex-I showed a relatively normal profile in the least affected patient and a generalised reduction in the intensities of all crossreacting bands in the other two patients. The most severely affected patient also showed a disproportionate and pronounced reduction in the 24 K Fe-S subunit. 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| ispartof | The Lancet (British edition), 1988-03, Vol.1 (8584), p.500-503 |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adult Biological and medical sciences Female Heart Humans Medical research Medical sciences Metabolic diseases Miscellaneous Mitochondria, Muscle - metabolism Muscular Diseases - metabolism Muscular Diseases - physiopathology NAD(P)H Dehydrogenase (Quinone) Other metabolic disorders Oxygen Consumption Oxygen uptake Quinone Reductases - deficiency |
| title | Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency |
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