Kodama H, Okabe I, Yanagisawa M, Kodama Y
Department of Pediatrics, Jichi Medical School, Tochigi-ken, Japan.
J Inherit Metab Dis. 1989;12(4):386-9. doi: 10.1007/BF01802032.
The mitochondrial copper concentrations and cytochrome C oxidase activity of the fibroblasts from the patients with Menkes syndrome were investigated. Both the mitochondrial copper concentrations and cytochrome C oxidase activity of fibroblasts from patients with Menkes syndrome were lower than those of the control fibroblasts. These data indicate that the mitochondria of fibroblasts from patients with Menkes syndrome are in a state of copper deficiency. The activity decline of cytochrome C oxidase, a mitochondrial cuproenzyme, seems to be caused by copper deficiency in the mitochondria.
对门克斯综合征患者的成纤维细胞的线粒体铜浓度和细胞色素C氧化酶活性进行了研究。门克斯综合征患者的成纤维细胞的线粒体铜浓度和细胞色素C氧化酶活性均低于对照成纤维细胞。这些数据表明，门克斯综合征患者的成纤维细胞线粒体处于铜缺乏状态。细胞色素C氧化酶（一种线粒体铜酶）的活性下降似乎是由线粒体中的铜缺乏引起的。
