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Cultured skin fibroblasts: Useful for diagnosis of Wilson's disease?
Author(s) -
Van den Berg G. J.,
Van den Hamer C. J. A.,
Meijer R. J.,
Hoogenraad T. U.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805532
Subject(s) - wilson's disease , fibroblast , cytosol , copper , copper metabolism , cell culture , disease , significant difference , pathology , cell , medicine , biology , chemistry , biochemistry , enzyme , genetics , organic chemistry
Summary The copper content of and radiocopper uptake in fibroblast cultures were studied to evaluate their usefulness for the diagnosis of Wilson's disease. We used methods closely related to those described in the literature, and applied these to cell lines of six patients with Wilson's disease and 12 controls. The results were: The copper content of the cytosol of skin fibroblasts derived from patients with Wilson's disease was lower than that of controls when the cells were grown in a medium with a low copper concentration (0.7 µmol L −1 ); increased copper concentration (157 µmol L −1 in the medium failed to demonstrate any difference between normal fibroblasts and those derived from patients with Wilson's disease. Radiocopper uptake studies did not differentiate between normal fibroblasts and fibroblasts from patients with Wilson's disease.We conclude that the cytosolic copper content of fibroblasts grown in a low copper medium is a potential diagnostic tool in Wilson's disease. At present not all controls can be distinguished from the Wilson cells; ways must be sought, therefore, of improving the technique.