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Fibroblast silver loading for the diagnosis of Menkes disease.

作者信息

Verheijen F W, Beerens C E, Havelaar A C, Kleijer W J, Mancini G M

机构信息

Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

出版信息

J Med Genet. 1998 Oct;35(10):849-51. doi: 10.1136/jmg.35.10.849.

DOI:10.1136/jmg.35.10.849
PMID:9783711
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051463/
Abstract

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.

摘要

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本文引用的文献

1
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.
J Med Genet. 1997 Sep;34(9):729-32. doi: 10.1136/jmg.34.9.729.
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N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat.
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