title: Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  The MURR1 gene plays no role in the pathogenesis of Wilson disease patients with normal serum ceruloplasmin levels.
authors.affiliation: Department of Gastroenterology, University of Heidelberg, Germany.
authors.forename: Karl Heinz
authors.initials: KH
authors.lastname: Weiss
authors.forename: Uta
authors.initials: U
authors.lastname: Merle
authors.forename: Mark
authors.initials: M
authors.lastname: Schaefer
authors.forename: Peter
authors.initials: P
authors.lastname: Ferenci
authors.forename: Joachim
authors.initials: J
authors.lastname: Fullekrug
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Stremmel
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D002352:Carrier Proteins; D002570:Ceruloplasmin / Q000032:analysis*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C480519:COMMD1 protein, human; D002352:Carrier Proteins; D011506:Proteins; D002570:Ceruloplasmin