Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants

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 expr...

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Bibliographic Details
Published in:Biochemical genetics 1980-02, Vol.18 (1-2), p.117-131
Main Authors: Camakaris, J, Danks, D M, Ackland, L, Cartwright, E, Borger, P, Cotton, R G
Format: Article
Language:English
Subjects:
Animals
Brain Diseases, Metabolic - genetics
Cells, Cultured
Copper - metabolism
Copper - pharmacology
Humans
Menkes Kinky Hair Syndrome - genetics
Menkes Kinky Hair Syndrome - metabolism
Mice
Mice, Mutant Strains - metabolism
Radioisotopes
Skin - metabolism
Zinc - metabolism
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Summary: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-min period but abnormally high accumulation over 24 hr and low rates of efflux. Menkes' fibroblasts become saturated with copper-64 at lower extracellular concentrations than for normal fibroblasts. These data support the idea of enhanced intracellular binding in mutant cells.
ISSN:0006-2928
1573-4927
DOI:10.1007/BF00504364