Menkes disease

a biochemical abnormality in cultured human fibroblasts

T. J. Goka, R. E. Stevenson, P. M. Hefferan, R. Howell

Research output: Contribution to journalArticle

123 Citations (Scopus)

Abstract

Cultured skin fibroblasts from patients with Menkes disease, an X linked disorder involving a defect in copper metabolism, were analyzed for copper concentration by means of atomic absorption spectrophotometry. These cultures consistently exhibited elevated copper concentrations (mean = 335.5 ng of copper per mg of protein) when compared to control fibroblast cultures (mean = 59.2 ng of copper per mg of protein). External factors that could influence the copper content of cultures were found not to affect the differences in copper concentration between control and Menkes cells. Furthermore, Menkes cells could be differentiated from cultured fibroblasts of controls, of presumed heterozygotes, and of Wilson's disease patients by copper concentration. These observations led to the conclusion that the increased copper content of cultured Menkes cells was characteristic of Menkes disease, resulting from the expression of the genetic abnormality. This provides a genetic marker, a defect in metal metabolism demonstrated in human fibroblasts, that should prove valuable in both the diagnosis of Menkes disease and in the study of the fundamental defect of this genetic disorder.

Original languageEnglish
Pages (from-to)604-606
Number of pages3
JournalProceedings of the National Academy of Sciences of the United States of America
Volume73
Issue number2
StatePublished - Dec 1 1976
Externally publishedYes

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Menkes Kinky Hair Syndrome
Copper
Fibroblasts
Atomic Spectrophotometry
Hepatolenticular Degeneration
Inborn Genetic Diseases
Heterozygote
Genetic Markers
Cultured Cells
Proteins
Metals

ASJC Scopus subject areas

  • General
  • Genetics

Cite this

Menkes disease : a biochemical abnormality in cultured human fibroblasts. / Goka, T. J.; Stevenson, R. E.; Hefferan, P. M.; Howell, R.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 73, No. 2, 01.12.1976, p. 604-606.

Research output: Contribution to journalArticle

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