Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.

Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte
Zhi-Ying WuL Yu

Abstract

Wilson disease (WD) is the most common disorder resulting in hepatic copper overload. A similar form of copper-associated cirrhosis caused by mutations of the canine copper toxicosis MURR1 gene is also observed in Bedlington terriers. Recent studies indicate that MURR1 might influence human copper metabolism and the clinical presentations of WD. However, the correlation between the MURR1 gene and the Chinese patients with WD has not been reported. In the present study, all three exons of the MURR1 gene including the intron-exon boundaries were directly sequenced in 120 unrelated healthy Chinese and 218 unrelated Chinese patients with WD. No mutations were detected in coding and splice site sequence in the human MURR1 gene. A novel polymorphism 3'+119T-->A in the 3' untranslated region (UTR) was identified in three healthy individuals and four patients with two disease-causing mutations in the ATP7B gene and a great diversity of clinical presentations. Of the ATP7B mutations reported here, Gly1268Arg is a novel one. Also, the previously described nucleotide change IVS2+63C-->G was detected in 31.66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in...Continue Reading

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Citations

May 15, 2007·Cellular and Molecular Life Sciences : CMLS·G N Maine, E Burstein
Feb 25, 2011·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Zhi-Qiang WangZhi-Ying Wu
Dec 8, 2011·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Hille FietenJan Rothuizen
Jun 3, 2010·Journal of Inherited Metabolic Disease·Karl Heinz WeissJoachim Füllekrug
May 21, 2009·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S-R GanS-X Murong
Dec 6, 2012·Translational Neurodegeneration·Qin-Yun Dong, Zhi-Ying Wu
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Aug 17, 2010·Parkinsonism & Related Disorders·Madhuri Behari, Vibhor Pardasani
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