Functional analysis of a genetic defect of copper transport (Menkes disease) in different cell lines

Menkes disease is a genetic disorder associated with impaired copper (Cu) metabolism. A study of the Cu transport mechanism in different cell lines showed that there is no difference in Cu uptake between normal and Menkes fibroblasts. Treatment with p-chloromercuribenzoic acid had no effect on normal and Menkes fibroblasts. Subsequent treatment with dithiothreitol enhanced Cu uptake in normal fibroblasts but not in Menkes fibroblasts. Menkes fibroblasts also released Cu at rates slower than normal fibroblasts. These results suggest that Cu transport mechanism varies in different cell types.