Defective copper binding to apo-ceruloplasmin in a rat model and patients with Wilson's disease

Liver. 1995 Jun;15(3):135-42. doi: 10.1111/j.1600-0676.1995.tb00660.x.

Abstract

To examine the mechanism of decrease in serum ceruloplasmin (Cp) in Long-Evans Cinnamon (LEC) rats, a proposed model of Wilson's disease, we analyzed Cp products at the stages of transcription and translation. Northern blot analysis and immunoblot analysis showed that the level and the molecular size of Cp mRNA and protein in LEC rats were similar to those in control Long-Evans-Agouti (LEA) rats. However, the ferroxidase activity of Cp was significantly decreased in LEC rats. We separated serum Cp into two forms by native polyacrylamide gel electrophoresis with pH modification: one was a holo-Cp with copper and ferroxidase activity, and the other was an inactive apo-Cp without copper. Holo-Cp was the predominant form in LEA rats and normal humans, whereas apo-Cp was the major form in LEC rats and patients with Wilson's disease. The cosegregation of apo-Cp predominance with the disease in LEC rats was analyzed using backcross rats. Apo-Cp was dominant in 8 of 11 offspring with disease but in none of 19 normal offspring. These results indicate that a genetic disturbance of copper binding to apo-Cp may be closely associated with the pathogenesis in LEC rats, and probably in Wilson's disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoproteins / biosynthesis
  • Apoproteins / metabolism*
  • Binding Sites
  • Blotting, Northern
  • Ceruloplasmin / biosynthesis
  • Ceruloplasmin / metabolism*
  • Copper / metabolism*
  • Disease Models, Animal
  • Electrophoresis, Polyacrylamide Gel
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Hepatolenticular Degeneration / genetics
  • Hepatolenticular Degeneration / metabolism*
  • Hepatolenticular Degeneration / pathology
  • Humans
  • Immunoblotting
  • Male
  • Protein Processing, Post-Translational
  • RNA, Messenger / analysis
  • Rats

Substances

  • Apoproteins
  • RNA, Messenger
  • apoceruloplasmin
  • Copper
  • Ceruloplasmin