Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome

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Abstract
Lysyl oxidase activity against both collagen and elastin substrates was examined in the culture medium of skin fibroblasts derived from unrelated patients with Menkes'' syndrome and from control subjects. The medium of 3 Menkes'' fibroblast lines showed 3-30% of the activity present in the medium of control fibroblasts, against a purified collagen substrate. Lysyl oxidase activity in the culture medium of 2 of the Menkes'' fibroblast lines was also examined by using a crude aortic-elastin substrate, and was similarly decreased in comparison with that in the medium of control fibroblasts. Lysyl oxidase activity in the medium of a 4th fibroblast line, derived from a fetus with Menkes'' syndrome, was 42% of that in the medium of control fibroblasts, derived from a 1 day old baby against a collagen substrate, and 26% of that in control fibroblast medium against an elastin substrate. The Cu content of the cell layers of the Menkes'' fibroblast cultures was elevated in comparison with normal fibroblast cultures, as has previously been reported to be characteristic of such cells. The decrease in lysyl oxidase activity might help to explain the connective tissue defects observed in Menkes'' syndrome. This reduction, in conjunction with the elevated concentrations of cellular Cu, would support the hypothesis that a functional intracellular Cu deficiency exists in Menkes'' syndrome.