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

Abstract

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.

• Authors: Karl Heinz Weiss, Uta Merle, Mark Schaefer, Peter Ferenci, Joachim Fullekrug, Wolfgang Stremmel
• Journal: World journal of gastroenterology (World J Gastroenterol) Vol. 12 Issue 14 Pg. 2239-42 (Apr 14 2006) ISSN: 1007-9327 [Print] United States
• PMID: 16610028 (Publication Type: Journal Article)

Chemical References

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

Topics

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