Kustermann-Kuhn B, Harzer K, Schröder R, Permanetter W, Peiffer J
Hum Genet. 1984;68(1):51-3. doi: 10.1007/BF00293871.
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.
在三例患有 Leigh 病（亚急性坏死性脑脊髓炎，SNE）的患者及对照者的尸检脑组织中，在不同条件下测定了丙酮酸脱氢酶复合体（PDHC）的活性。结果发现其处于对照水平或有所升高，而非缺乏。作为额外的线粒体标志物，还测定了琥珀酸脱氢酶、延胡索酸酶、琥珀酸细胞色素 c 还原酶、细胞色素 c 氧化酶和谷氨酸脱氢酶的活性，结果显示 SNE 组织与对照组织之间无本质差异。SNE 的代谢缺陷仍然未知。根据文献，该缺陷可能定位于线粒体系统。然而，所报道的结果表明，它不能归因于 PDHC 的功能。对于理解这种致命的遗传性代谢疾病的发病机制，需要进行广泛的生化研究。
