Verheijen F W, Beerens C E, Havelaar A C, Kleijer W J, Mancini G M
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
J Med Genet. 1998 Oct;35(10):849-51. doi: 10.1136/jmg.35.10.849.
Menkes disease is a genetic disorder of copper metabolism. Copper uptake and retention assays on fibroblast or amniotic fluid cell cultures have been used for pre- and postnatal diagnosis. These copper loading tests are complicated by the use of 64Cu, which is not commonly available and has a very short (12.8 hours) physical half life. Besides copper, silver is also a substrate for the bacterial homologue of the Menkes transport protein. We report here that loading tests using radioactive silver (110mAg), instead of copper, can be used for the diagnosis of Menkes disease. 110mAg is commercially available and has a convenient physical half life of 250 days, which makes it suitable for use in diagnostic laboratories. Our studies support the hypothesis that reduction of divalent to monovalent copper is an essential step preceding transport.
门克斯病是一种铜代谢的遗传性疾病。成纤维细胞或羊水细胞培养的铜摄取和保留试验已用于产前和产后诊断。这些铜负荷试验因使用64Cu而变得复杂，64Cu并不常见，且物理半衰期非常短（12.8小时）。除了铜，银也是门克斯转运蛋白细菌同源物的底物。我们在此报告，使用放射性银（110mAg）而非铜进行负荷试验可用于门克斯病的诊断。110mAg有商业供应，其物理半衰期为250天，很方便，这使其适用于诊断实验室。我们的研究支持以下假设，即二价铜还原为一价铜是运输之前的关键步骤。
