Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels.
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.
Weiss
Karl Heinz
KH
Department of Gastroenterology, University of Heidelberg, Germany.
Merle
Uta
U
Schaefer
Mark
M
Ferenci
Peter
P
Fullekrug
Joachim
J
Stremmel
Wolfgang
W
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*
D048868:Adaptor Proteins, Signal Transducing; C480519:COMMD1 protein, human; D002352:Carrier Proteins; D011506:Proteins; D002570:Ceruloplasmin