Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants.
J Camakaris, DM Danks, L Ackland, E Cartwright, P Borger, RG Cotton
Biochem Genet | Published : 1980
Cultured cells of a variety of different types from human Menkes' syndrome patients and brindled mouse mutants exhibit similarly altered responses to changes in extracellular copper concentration. This suggests that the mutations in the mouse and human are very similar and that mutant gene expression is occurring in many different tissues. Intracellular copper levels are markedly elevated in mutant cells in normal medium and in medium containing a hundred-fold higher copper. Some cell lines from heterozygotes possess elevated copper levels. Elevated extracellular copper and zinc are significantly more toxic to mutant cells. Mutant cells exhibit normal rates of uptake of copper-64 over a 10-m..View full abstract