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 the Chinese population.
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Acknowledgements
We sincerely thank the affected patients for their help and willingness to participate in this study. This project was supported by grant 30370517 from the National Natural Science Foundation (Beijing), grant 2002Y001 from Fujian Provincial Science and Technology Foundation (Fuzhou) and grant XZ04009 from Fujian Medical University (Fuzhou), People’s Republic of China.
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Wu, ZY., Zhao, GX., Chen, WJ. et al. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med 84, 438–442 (2006). https://doi.org/10.1007/s00109-005-0036-y
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DOI: https://doi.org/10.1007/s00109-005-0036-y