van den Berg G J, Kroon J J, Wijburg F A, Sinjorgo K M, Herzberg N H, Bolhuis P A
Department of Radiochemistry, Delft University of Technology, The Netherlands.
J Inherit Metab Dis. 1990;13(2):207-11. doi: 10.1007/BF01799687.
We present 64Cu uptake studies in cultured muscle cells from a one-year-old patient with Menkes' disease. The cultured muscle cells from the patient showed a five-fold higher 64Cu uptake than control muscle cells. Copper uptake in muscle cells was of the same magnitude as that found in fibroblasts from the patient and also from other Menkes' patients. The copper content of a muscle biopsy from the patient was twice that of a control biopsy. The enhanced uptake is probably copper specific, since zinc uptake was unaltered in both muscle cells and fibroblasts from the patient. Cytochrome c oxidase in the muscle of the patient was reduced to one-third of the value for controls, which is in agreement with the hypothesis that in Menkes' disease copper accumulates in a biologically non-active form. However, in cultured muscle cells and fibroblasts from the patient the cytochrome c oxidase activity was in the normal range, probably because of the relatively large amount of copper already available in the culture medium.
我们展示了对一名患有门克斯病的一岁患者的培养肌肉细胞进行的⁶⁴Cu摄取研究。该患者的培养肌肉细胞对⁶⁴Cu的摄取量比对照肌肉细胞高五倍。肌肉细胞中的铜摄取量与该患者以及其他门克斯病患者的成纤维细胞中的摄取量相当。该患者肌肉活检的铜含量是对照活检的两倍。摄取增强可能具有铜特异性，因为患者的肌肉细胞和成纤维细胞中的锌摄取未发生改变。该患者肌肉中的细胞色素c氧化酶降至对照值的三分之一，这与门克斯病中铜以生物无活性形式积累的假说相符。然而，在该患者的培养肌肉细胞和成纤维细胞中，细胞色素c氧化酶活性处于正常范围内，这可能是因为培养基中已有相对大量的铜。
