Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease

Abstract

The incorporation of 64Cu into cultured fibroblasts from 7 boys with Menkes' steely hair disease and from 9 controls was examined. The median 20 h incorporation was 74-4 ng 64Cu/mg protein for the patients and 26-1 ng 64Cu/mg protein for the controls (P less than 0.01). Thus, the defect in copper metabolism in the disease was expressed in cultured cells. The method was applied to amniotic fluid cell-cultures of 2 pregnancies at risk and to amniotic fluid cell-cultures with a male karyotype of 8 normal pregnancies. The median 20h 64Cu incorporation into the normal cell-cultures was 19.2 ng 64Cu/mg protein, into the cell-culture from one pregnancy at risk was 48-6 ng 64Cu/mg protein, and from the other, 12-5 ng 64Cu/mg protein. The first case was aborted and the copper distribution in the fetus was found to be abnormal--consistent with Menkes' disease. The second case at risk was born in May, 1975, and no signs of Menkes' disease have developed. These cases demonstrate that prenatal diagnosis of Menkes' steely hair disease might be feasible.