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Tytuł:
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Variations in ATP7B in cats with primary copper-associated hepatopathy.
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Autorzy:
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Asada H; Department of Veterinary Internal Medicine, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Chambers JK; Department of Veterinary Pathology, Graduate School of Agricultural and Life Science, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Kojima M; Veterinary Medical Center, Graduate School of Agricultural and Life Science, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Goto-Koshino Y; Department of Veterinary Internal Medicine, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Nakagawa T; Veterinary Medical Center, Graduate School of Agricultural and Life Science, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Yokoyama N; Veterinary Medical Center, Graduate School of Agricultural and Life Science, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Tsuboi M; Department of Veterinary Pathology, Graduate School of Agricultural and Life Science, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Uchida K; Department of Veterinary Pathology, Graduate School of Agricultural and Life Science, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Tsujimoto H; Department of Veterinary Internal Medicine, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Ohno K; Department of Veterinary Internal Medicine, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
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Źródło:
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Journal of feline medicine and surgery [J Feline Med Surg] 2020 Aug; Vol. 22 (8), pp. 753-759. Date of Electronic Publication: 2019 Nov 05.
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Typ publikacji:
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Case Reports; Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: 2012- : London : Sage
Original Publication: London ; Philadelphia : WB Saunders Co.,
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MeSH Terms:
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Cat Diseases/*genetics
Copper-Transporting ATPases/*genetics
Hepatolenticular Degeneration/*veterinary
Liver/*enzymology
Animals ; Cats ; Copper/blood ; Copper-Transporting ATPases/metabolism ; Female ; Hepatolenticular Degeneration/genetics ; Liver/pathology ; Male
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Contributed Indexing:
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Keywords: Ceruloplasmin; Wilson’s disease; primary copper-associated hepatopathy; rhodanine staining; single-nucleotide variation
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Substance Nomenclature:
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789U1901C5 (Copper)
EC 7.2.2.8 (Copper-Transporting ATPases)
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Entry Date(s):
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Date Created: 20191106 Date Completed: 20210216 Latest Revision: 20210216
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Update Code:
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20240104
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DOI:
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10.1177/1098612X19884763
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PMID:
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31687873
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Objectives: Primary copper-associated hepatopathy (PCH) has been reported in young cats. Although our group recently reported a young cat with PCH harbouring single-nucleotide variations in ATP7B , limited information is available regarding its association with the pathogenesis of feline PCH. The objective of this study was to investigate the prevalence of ATP7B variations in cats with PCH.
Methods: Rhodanine staining was performed to detect hepatic copper accumulation (HCA) in intraoperative liver tissue specimens from 54 cats. In cats with HCA, variations in ATP7B and COMMD1 and serum ceruloplasmin activity were analysed.
Results: Based on age, liver histopathological findings and hepatic distribution of accumulated copper, PCH was suspected in 4/54 cats. Sequence analysis of ATP7B and COMMD1 revealed single-nucleotide variations in ATP7B in 3/4 cats with PCH. Among the cats with PCH, one showed remarkably low serum ceruloplasmin activity, while the other three did not.
Conclusions and Relevance: The results of this study suggest that some cats with PCH harbour single-nucleotide variations in ATP7B , suggesting that feline PCH is an equivalent disorder to human Wilson's disease. This study provides basic evidence facilitating further studies of the pathophysiology and treatment of feline PCH.
