Tsurui S, Sugie H
Department of Pediatrics, Hamamatsu University, School of Medicine, Shizuoka.
No To Hattatsu. 1990 Nov;22(6):560-5.
The wet weight, copper content, mitochondrial electron-transfer complexes and 2',3'-cyclic nucleotide 3'-phosphohydrolase (CNPase) were measured in various organs including brain, liver, kidney, and heart in macular mutant mice which are considered to be an appropriate model for human Menkes kinky hair disease (MKHD). Copper contents were decreased markedly in liver, brain, and heart. However a significant increase was noted in kidney, suggesting a disproportionate distribution of copper contents in each organ in this mutant mouse. Regarding mitochondrial electron-transfer complexes, only cytochrome c oxidase, a copper dependent enzyme, was found to be decreased in heart and brain. This alteration in the brain was already demonstrated at 2 days. CNPase was not decreased in its activity at 7 days, but decreased at 14 days, supporting progressive demyelination. These results suggested that this mutant mouse would be a useful animal model for clarifying the pathogenesis in human MKHD.
在黄斑突变小鼠的各个器官（包括脑、肝、肾和心脏）中测量了湿重、铜含量、线粒体电子传递复合物以及2',3'-环核苷酸3'-磷酸水解酶（CNPase）。黄斑突变小鼠被认为是人类门克斯卷发疾病（MKHD）的合适模型。肝脏、脑和心脏中的铜含量显著降低。然而，肾脏中的铜含量显著增加，这表明在这种突变小鼠中，每个器官的铜含量分布不均衡。关于线粒体电子传递复合物，仅发现心脏和脑中依赖铜的细胞色素c氧化酶减少。这种脑部变化在2天时就已显现。CNPase在7天时活性未降低，但在14天时降低，支持进行性脱髓鞘。这些结果表明，这种突变小鼠将是阐明人类MKHD发病机制的有用动物模型。
