Abnormal copper metabolism in cultured fibroblasts from patients with Wilson's disease.

Abstract

Skin fibroblasts derived from patients with Wilson's disease have, under certain conditions, elevated concentrations of copper. However, the levels of intracellular copper varied from one experiment to another and the reason for this inconsistency has not yet been determined. 64Cu retention after 24 hours and its release in "chase" experiments was not abnormal, thus distinguishing these fibroblasts from Menkes' syndrome fibroblasts. The data provides evidence that the mutant gene responsible for Wilson's disease is expressed in fibroblasts under certain conditions.