Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy,SNE) |
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Authors: | B Kustermann-Kuhn K Harzer R Schröder W Permanetter J Peiffer |
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Institution: | (1) Institut für Hirnforschung, Universität Tübingen, Belthlestr. 15, D-7400 Tübingen, Federal Republic of Germany;(2) Department of Pathology, University of Cologne, Cologne, Federal Republic of Germany;(3) Department of Pathology, University of Munich, Federal Republic of Germany |
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Abstract: | Summary In autopsied brain tissue from three cases with Leigh disease (subacute necrotizing encephalomyelitis, SNE) and controls, the activity of pyruvate dehydrogenase complex (PDHC) was determined under different conditions. It was found to be at the control level or increased, but not deficient. The activities of succinate dehydrogenase, fumarase, succinate cytochrome c reductase, cytochrome c oxidase, and glutamate dehydrogenase were measured as additional mitochondrial markers and showed no essential differences between SNE and control tissue. The metabolic defect in SNE remains unknown. According to the literature, the defect may be localized to the mitochondrial systems. However, the reported results indicate that it cannot be ascribed to PDHC function. Extensive biochemical studies are necessary for understanding of the pathogenesis in the fatal genetic metabolic disease. |
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