Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Müller, T; van de Sluis, B; Zhernakova, A; van Binsbergen, E; Janecke, AR; Bavdekar, A; Pandit, A; Weirich-Schwaiger, H; Witt, H; Ellemunter, H; Deutsch, J; Denk, H; Müller, W; Sternlieb, I; Tanner, MS; Wijmenga, C.
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.
J Hepatol. 2003; 38(2):164-168
Doi: 10.1016%2FS0168-8278%2802%2900356-2
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- Führende Autor*innen der Med Uni Graz
- Müller Thomas
- Co-Autor*innen der Med Uni Graz
- Denk Helmut
- Deutsch Johann
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- Abstract:
- BACKGROUND: Non-Wilsonian hepatic copper toxicosis includes Indian childhood cirrhosis (ICC), endemic Tyrolean infantile cirrhosis (ETIC) and the non-Indian disease known as idiopathic copper toxicosis (ICT). These entities resemble the hepatic copper overload observed in livers of Bedlington terriers with respect to their clinical presentation and biochemical and histological findings. We recently cloned the gene causing copper toxicosis in Bedlington terriers, MURR1, as well as the orthologous human gene on chromosome 2p13-p16. AIM: To study the human orthologue of the canine copper toxicosis gene as a candidate gene for ICC, ETIC, and ICT. METHODS: We sequenced the exons and the intron-exon boundaries of the human MURR1 gene in 12 patients with classical ICC, one patient with ETIC, and 10 patients with ICT to see whether these patients display any mutations in the human orthologue of the canine copper toxicosis gene. RESULTS: No mutations in the MURR1 gene, including the intron-exon boundaries, were identified in a total of 23 patients with non-Wilsonian hepatic copper toxicosis. CONCLUSIONS: Our results demonstrate that copper toxicosis in Bedlington terriers is not an animal model for the non-Wilsonian hepatic copper toxicosis described in this study.
- Find related publications in this database (using NLM MeSH Indexing)
- Animals -
- Base Sequence -
- Copper - adverse effects
- Dogs - adverse effects
- Hepatolenticular Degeneration - adverse effects
- Humans - adverse effects
- Infant - adverse effects
- Liver Cirrhosis - genetics
- Metabolism, Inborn Errors - genetics
- Molecular Sequence Data - genetics
- Proteins - genetics
- Find related publications in this database (Keywords)
- childhood cirrhosis
- copper
- pediatric