Premium
Abnormal copper metabolism in cultured fibroblasts from patients with Wilson's disease
Author(s) -
Camakaris J.,
Ackland L.,
Danks D. M.
Publication year - 1980
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/bf02312550
Subject(s) - wilson's disease , menkes disease , intracellular , fibroblast , copper metabolism , copper , mutant , metabolism , disease , chemistry , endocrinology , gene , medicine , biology , cell culture , biochemistry , genetics , organic chemistry
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. 64 Cu 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.