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World J Gastroenterol. Apr 14, 2006; 12(14): 2239-2242
Published online Apr 14, 2006. doi: 10.3748/wjg.v12.i14.2239
Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels
Karl Heinz Weiss, Uta Merle, Mark Schaefer, Peter Ferenci, Joachim Fullekrug, Wolfgang Stremmel
Karl Heinz Weiss, Uta Merle, Mark Schaefer, Joachim Fullekrug, Wolfgang Stremmel, Department of Gastroenterology, University of Heidelberg, Germany
Peter Ferenci, Department of Gastroenterology and Hepatology, Medical University of Vienna, Austria
Correspondence to: Professor Wolfgang Stremmel, Medizinische Universitätsklinik Heidelberg, Abteilung Innere Medizin IV, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany. wolfgang_stremmel@med.uni-heidelberg.de
Telephone: +49-6221-568705 Fax: +49-6221-564116
Received: October 21, 2005
Revised: November 1, 2005
Accepted: November 10, 2005
Published online: April 14, 2006
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.

Keywords: Wilson Disease; ATP7B; MURR1; COMMD1