Cultured skin fibroblasts: Useful for diagnosis of Wilson's disease?
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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.
KeywordsPublic Health Copper Internal Medicine Cytosol Metabolic Disease
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