Variations in ATP7B in cats with primary copper-associated hepatopathy.

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. 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. 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. 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.

Citation

Hajime Asada, James K Chambers, Mari Kojima, Yuko Goto-Koshino, Taisuke Nakagawa, Nozomu Yokoyama, Masaya Tsuboi, Kazuyuki Uchida, Hajime Tsujimoto, Koichi Ohno. Variations in ATP7B in cats with primary copper-associated hepatopathy. Journal of feline medicine and surgery. 2020 Aug;22(8):753-759

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PMID: 31687873

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