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N Horn

Publications and source records attributed to N Horn.

103 records · Page 6Linked to original sources
PubMed1976

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

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.

Amniotic Fluid↗
PubMed1976

Menkes diseases.

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Brain Diseases↗
PubMed1975

Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease.

The distribution of copper among the organs of an aborted, male foetus, expected to develop Menkes' syndrome, was entirely different from the distribution in 4 normal foetuses. Copper concentrations determined by neutron activation analysis showed a considerably reduced content in the liver, but increased concentrations in the other organs analysed; total foetal copper was normal.

Brain Diseases↗
PubMedDate not supplied

Metallothionein expression in placental tissue in Menkes' disease. An immunohistochemical study.

Menkes' disease is a recessive X-linked disturbance of copper metabolism, resulting in accumulation of copper in several extra-hepatic tissues including the placenta. Metallothionein (MT) is a low-molecular weight protein with a high affinity for group II metal ions, such as copper. Its synthesis is induced by the presence of the ions. The aim of this study was to investigate the pattern of the MT immunoreactivity in placental tissue obtained from women at-risk of Menkes' disease in order to examine whether the MT occurrence and distribution may reflect the copper content. Placental tissue from six women with a family history of Menkes' disease, from 4 women without a family history, and from 2 hydatiform moles was studied. Positive MT immunostaining was found to be independent of the length of fixation, whether the tissue samples were fixed in 4% buffered formaldehyde or Bouin's fixative. The avidin-biotin-complex (ABC)-technique was used. The copper content was measured by neutron activation analysis (NAA). In all placental tissue sections positive MT immunostaining appeared only in the trophoblast and only in proliferating cells. In placental tissue sections obtained from foetuses and children affected by Menkes' disease an additional MT immunostaining appeared in the Hofbauer cells of the chorionic villi. This staining was associated with an increased content of copper as measured by NAA. We conclude that the immunohistochemical demonstration of MT reflects the copper content and may be useful in pre- and postnatal diagnosis of Menkes' disease.

Female↗
PubMedDate not supplied

Menkes syndrome: subcellular distribution of copper determined by an ultrastructural histochemical technique.

Several cell types from male infants with Menkes disease accumulate increased amounts of copper. Ultrastructural localization of copper by a histologic staining technique and X-ray microanalysis is established the subcellular distribution of the metal. In Menkes patients, copper was heavily concentrated on the brush border of intestinal epithelium as well as on the plasma membrane of cultured fibroblasts. The transport defect seems to be caused by a decreased transport of copper across plasma membrane, which mainly affects the influx mechanism.

Brain Diseases, Metabolic↗