Cultured skin fibroblasts: useful for diagnosis of Wilson's disease?

Journal of Inherited Metabolic Disease
G J Van den BergT U Hoogenraad

Abstract

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: (1) 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 mumolL-1); increased copper concentration (157 mumol L-1 in the medium failed to demonstrate any difference between normal fibroblasts and those derived from patients with Wilson's disease. (2) 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.

References

Oct 1, 1987·American Journal of Medical Genetics·B A Gray, S M Gollin
Feb 1, 1987·Journal of the Neurological Sciences·T U HoogenraadC J Van den Hamer
Oct 1, 1984·Journal of Inorganic Biochemistry·G J van den Berg, C J van den Hamer
Jan 1, 1980·Journal of Inherited Metabolic Disease·J CamakarisD M Danks
Oct 1, 1956·The American Journal of Medicine·J M WALSHE

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Citations

Jul 7, 2007·Neuropsychology, Development, and Cognition. Section B, Aging, Neuropsychology and Cognition·Aryn L H BushPaula K Ogrocki
Jan 27, 2015·Clinical Journal of Gastroenterology·Irina Ivanova IvanovaDimitrina Hristova Konstantinova
Jan 1, 1991·International Journal of Psychiatry in Medicine·T R Dening
Jan 1, 1994·European Journal of Pediatrics·W LehnertE R Baumgartner
Nov 26, 2009·Ultrastructural Pathology·Mukaddes EşrefoğluMukadder Ayşe Selimoğlu

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