Robinson B H, Ward J, Goodyer P, Baudet A
J Clin Invest. 1986 May;77(5):1422-7. doi: 10.1172/JCI112453.
The cultured skin fibroblasts from three patients with lacticacidemia were found to have low rates of 1-[14C]pyruvate oxidation in the face of normal pyruvate dehydrogenase activity. After incubation with 1 mM glucose, these three cell strains also exhibited lactate/pyruvate ratios which were three times greater than those of controls. In two of the patients, both ATP and oxygen consumption in fibroblast mitochondrial preparations was deficient with NAD-linked substrates but normal with succinate and ascorbate/N'N'N'N' tetramethyl phenylene diamine. In the third patient, ATP synthesis in mitochondrial preparations was deficient with all substrates tested. Measurement of Rotenone-sensitive NADH-cytochrome c reductase in mitochondrial preparations from skin fibroblasts showed that two of the patients had 14 and 18%, respectively, of control activity. In the third patient, cytochrome oxidase activity was 15% of that in controls. We conclude that respiratory chain defects can be demonstrated in cultured skin fibroblasts with consistency using a number of different techniques.
三名乳酸血症患者的培养皮肤成纤维细胞在丙酮酸脱氢酶活性正常的情况下，1-[¹⁴C]丙酮酸氧化速率较低。在与1 mM葡萄糖孵育后，这三种细胞株的乳酸/丙酮酸比值也比对照组高三倍。在两名患者中，成纤维细胞线粒体制剂中与NAD相关底物的ATP和氧气消耗均不足，但与琥珀酸和抗坏血酸/N'N'N'N' - 四甲基对苯二胺的情况正常。在第三名患者中，线粒体制剂中对所有测试底物的ATP合成均不足。对皮肤成纤维细胞线粒体制剂中鱼藤酮敏感的NADH - 细胞色素c还原酶的测量表明，两名患者的活性分别为对照组的14%和18%。在第三名患者中，细胞色素氧化酶活性为对照组的15%。我们得出结论，使用多种不同技术可以在培养的皮肤成纤维细胞中一致地证明呼吸链缺陷。
