Garnica A D, Chan W Y, Rennert O M
Ann Clin Lab Sci. 1978 Jul-Aug;8(4):302-9.
Fibroblasts from infants with Menkes kinky hair syndrome, which accumulate excessive quantities of copper, are thought to represent a disorder of copper storage or transport. Because of this abnormality, it was thought that they might provide a useful system for investigation of the presumed storage or transport protein metallothionein. Data are presented which are consistent with defective copper efflux from the mutant cells. Because of the more specific role of metallothionein in cadmium detoxification, studies of cadmium metabolism were undertaken which demonstrated abnormal cadmium retention and metallothionein induction in the mutant cells. The association, therefore, of a defect of cadmium metabolism and storage with an abnormality of copper efflux provides evidence implicating metallothionein in copper transport for fibroblasts.
患有门克斯卷发综合征的婴儿的成纤维细胞会积累过量的铜，被认为代表了一种铜储存或运输的紊乱。由于这种异常情况，人们认为它们可能为研究假定的储存或运输蛋白金属硫蛋白提供一个有用的系统。所呈现的数据与突变细胞中铜外流缺陷一致。由于金属硫蛋白在镉解毒中具有更特定的作用，因此进行了镉代谢研究，结果表明突变细胞中镉保留异常且金属硫蛋白诱导异常。因此，镉代谢和储存缺陷与铜外流异常之间的关联提供了证据，表明金属硫蛋白参与成纤维细胞的铜运输。
