Genetic expression of Wilson's disease in cell culture: a diagnostic marker

Science. 1980 Apr 18;208(4441):299-300. doi: 10.1126/science.7367859.

Abstract

Wilson's disease fibroblasts have an elevated intracellular copper concentration as compared to cultured control cells. A decreased ratio of copper to protein was observed in cytoplasmic protein (or proteins) having a molecular weight greater than or equal to 30,000 in Wilson's disease cells. The results of this culture study indicate its potential importance in the early unequivocal diagnosis of this disorder.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Cadmium / metabolism
  • Cells, Cultured
  • Child
  • Copper / metabolism
  • Fibroblasts / metabolism
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / metabolism
  • Humans
  • Skin / metabolism

Substances

  • Cadmium
  • Copper