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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- Chan, W.-Y., Tease, L. A., Liu, H.-C. and Rennert, O. W. Cell culture studies of Wilson's disease. In Sarkar, B. (ed.)Biological Aspects of Metals and Metal-Related Diseases, Raven Press, New York, 1983, pp. 147–158Google Scholar
- Cumings, J. N. The copper and iron content of brain and liver in the normal and the hepatolenticular degeneration.Brain 71 (1948) 410–415Google Scholar
- Favier, A., Meo, J., Behr, C., Pace, C. and Mathieu M. Menkes' and Wilson's disease: study of copper in skin fibroblasts.J. Inher. Metab. Dis. 6 Suppl. 2 (1983) 86Google Scholar
- Horn, N. Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females.Prenat. Diagn. 107 (1981) 107–120Google Scholar
- Hoogenraad, T. U., Van Hattum, J. and Van den Hamer, C. J. A. Management of Wilson's disease with zinc sulphate; Experience in a series of 27 patients.Neurol. Sci. 77 (1987) 137–145Google Scholar
- Van den Berg, G. J. and Van den Hamer, C. J. A.64Copper uptake in fibroblasts in Menkes' disease.Pediatr. Res. 20 (1986) 1048Google Scholar
- Van den Hamer, C. J. A. and Hoogenraad, T. U.64Copper loading tests for monitoring zinc therapy in Wilson's disease.Trace Elem. Med. 1 (1984) 84–87Google Scholar
- Walshe, J. M. Penicillamine, a new oral therapy for Wilson's disease.Am. J. Med. 21 (1976) 487–495Google Scholar
- Wilson, S. A. K. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver.Brain 34 (1912) 295–309Google Scholar