Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels

World J Gastroenterol. 2006 Apr 14;12(14):2239-42. doi: 10.3748/wjg.v12.i14.2239.


Aim: To analyze our Wilson disease patient cohort (n=106) for alterations in the gene coding for MURR1.

Methods: Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels were chosen for our study (n = 14). Patients with two known disease-causing mutations in the ATP7B gene were not included. The three exons of the human MURR1 gene were sequenced after amplification of the genomic DNA by polymerase chain reaction.

Results: Our study did not reveal any mutations leading to an amino acid change in the MURR1 sequence of Wilson disease patients. A polymorphism at 472 bp of the coding sequence could be confirmed.

Conclusion: The MURR1 gene plays no role in the pathogenesis of Wilson disease patients with normal serum ceruloplasmin levels.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Aged
  • Carrier Proteins
  • Ceruloplasmin / analysis*
  • Female
  • Hepatolenticular Degeneration / blood
  • Hepatolenticular Degeneration / etiology
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Proteins / genetics*


  • Adaptor Proteins, Signal Transducing
  • COMMD1 protein, human
  • Carrier Proteins
  • Proteins
  • Ceruloplasmin