New canine models of copper toxicosis: Diagnosis, treatment, and genetics

Annals of the New York Academy of Sciences

Volumn 1314, Issue 1, 2014, Pages 42-48

  Fieten, Hille ^a   Penning, Louis C ^a   Leegwater, Peter A J ^a   Rothuizen, Jan ^a  

^a UTRECHT UNIVERSITY   (Netherlands)

Author keywords

Copper; Dog; Genetics; Liver; One health

Indexed keywords

COPPER; DNA; WILSON DISEASE PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BREEDING; CANINE MODEL; COMMD1 GENE; COPPER METABOLISM; COPPER POISONING; DIETARY INTAKE; DOG; ECOLOGICAL GENETICS; ENDEMIC TYROLEAN INFANTILE CIRRHOSIS; ENVIRONMENTAL FACTOR; FEMALE; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HEAVY METAL POISONING; IDIOPATHIC COPPER TOXICOSIS; IDIOPATHIC DISEASE; INDIAN CHILDHOOD CIRRHOSIS; LABRADOR RETRIEVER; LIVER CIRRHOSIS; LIVER TOXICITY; MALE; NEUROTOXICITY; NONHUMAN; ONSET AGE; PHENOTYPE; WILSON DISEASE;

COPPER; DOG; GENETICS; LIVER; ONE HEALTH;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; CHROMOSOME DELETION; COPPER; DISEASE MODELS, ANIMAL; DOG DISEASES; DOGS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEPATITIS, ANIMAL; LIVER; LIVER CIRRHOSIS; MALE; METAL METABOLISM, INBORN ERRORS; PENICILLAMINE;

EID: 84900016853     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/nyas.12442     Document Type: Article

References (60)

1. Bull, P.C., G.R. Thomas, J.M. Rommens, et al. 1993. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet. 5: 327-337.
2. Tanzi, R.E., K. Petrukhin, I. Chernov, et al. 1993. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet. 5: 344-350.
3. Huster, D. 2010. Wilson disease. Best Pract. Res. Clin. Gastroenterol. 24: 531-539.
4. Riordan, S.M. & R. Williams . 2001. The Wilson's disease gene and phenotypic diversity. J. Hepatol. 34: 165-171.
5. Muller T., H. Feichtinger, H. Berger, et al. 1996. Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder. Lancet 347: 877-880.
6. Tanner, M.S. 1998. Role of copper in Indian childhood cirrhosis. Am. J. Clin. Nutr. 67: 1074S-1081S.
7. Muller, T., W. Muller & H. Feichtinger . 1998. Idiopathic copper toxicosis. Am. J. Clin. Nutr. 67: 1082S-1086S.
8. Theophilos, M.B., D.W. Cox & J.F. Mercer . 1996. The toxic milk mouse is a murine model of Wilson disease. Hum. Mol. Genet. 5: 1619-1624.
9. Buiakova, O. I., J. Xu, S. Lutsenko, et al. 1999. Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum. Mol. Genet. 8: 1665-1671.
10. Li, Y., Y. Togashi, S. Sato, et al. 1991. Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease. J. Clin. Invest. 87: 1858-1861.
11. Wu, J., J.R. Forbes, H.S. Chen, et al. 1994. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat. Genet. 7: 541-545.
12. Haywood, S., T. Muller, W. Muller, et al. 2001. Copper-associated liver disease in North Ronaldsay sheep: a possible animal model for non-Wilsonian hepatic copper toxicosis of infancy and childhood. J. Pathol. 195: 264-269.
13. Ostrander, E.A. 2012. Franklin H. Epstein Lecture. Both ends of the leash-the human links to good dogs with bad genes. N. Engl. J. Med. 367: 636-646.
14. Van de Sluis, B., J. Rothuizen, P.L. Pearson, et al. 2002. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum. Mol. Genet. 11: 165-173.
15. Klomp, A.E., B. van de Sluis, L.W. Klomp, et al. 2003. The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis. J. Hepatol. 39: 703-709.
16. Biasio, W., T. Chang, C.J. McIntosh, et al. 2004. Identification of Murr1 as a regulator of the human delta epithelial sodium channel. J. Biol. Chem. 279: 5429-5434.
17. Chang, T., Y. Ke, K. Ly, et al. 2011. COMMD1 regulates the delta epithelial sodium channel (deltaENaC) through trafficking and ubiquitination. Biochem. Biophys. Res. Commun. 411: 506-511.
18. Ke, Y., A.G. Butt, M. Swart, et al. 2010. COMMD1 downregulates the epithelial sodium channel through Nedd4-2. Am. J. Physiol. Renal. Physiol. 298: F1445-F1456.
19. Burstein, E., J.E. Hoberg, A.S. Wilkinson, et al. 2005. COMMD proteins, a novel family of structural and functional homologs of MURR1. J. Biol. Chem. 280: 22222-22232.
20. Maine, G.N., X. Mao, C.M. Komarck, et al. 2007. COMMD1 promotes the ubiquitination of NF-kappaB subunits through a cullin-containing ubiquitin ligase. EMBO J. 26: 436-447.
21. van de Sluis, B., P. Muller, K. Duran, et al. 2007. Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice. Mol. Cell. Biol. 27: 4142-4156.
22. van de Sluis, B., A.J. Groot, J. Vermeulen, et al. 2009. COMMD1 promotes pVHL and O2-independent proteolysis of HIF-1alpha via HSP90/70. PLoS One 4: e7332.
23. van de Sluis, B., X. Mao, Y. Zhai, et al. 2010. COMMD1 disrupts HIF-1alpha/beta dimerization and inhibits human tumor cell invasion. J. Clin. Invest. 120: 2119-2130.
24. de Bie, P., B. van de Sluis, E. Burstein, et al. 2007. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 133: 1316-1326.
25. Herrtage, M.E., C.A. Seymour, R.A.S. White, et al. 1987. Inherited copper toxicosis in the Bedlington terrier: the prevalence in asymptomatic dogs. J. Small Anim. Pract. 28: 1141-1151.
26. Ubbink, G.J., T.S. Van Den Ingh, V. Yuzbasiyan-Gurkan, et al. 2000. Population dynamics of inherited copper toxicosis in Dutch Bedlington terriers (1977-1997). J. Vet. Intern. Med. 14: 172-176.
27. Favier, R.P., B. Spee, B.A. Schotanus, et al. 2012. COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. PLoS One 7: e42158.
28. Thornburg, L.P. 2000. A perspective on copper and liver disease in the dog. J. Vet. Diagn. Invest. 12: 101-110.
29. Thornburg, L.P. 1998. Histomorphological and immunohistochemical studies of chronic active hepatitis in Doberman Pinschers. Vet. Pathol. 35: 380-385.
30. Thornburg, L.P., G. Rottinghaus, M. McGowan, et al. 1990. Hepatic copper concentrations in purebred and mixed-breed dogs. Vet. Pathol. 27: 81-88.
31. Hoffmann, G., T.S.G.A.M. Van Den Ingh, P. Bode, et al. 2006. Copper-associated chronic hepatitis in Labrador retrievers. J. Vet. Intern. Med. 20: 856-861.
32. Hoffmann, G., H.C. Heuven, P.A. Leegwater, et al. 2008. Heritabilities of copper-accumulating traits in Labrador retrievers. Anim. Genet. 39: 454.
33. Mandigers, P.J., T.S. Van Den Ingh, P. Bode, et al. 2004. Association between liver copper concentration and subclinical hepatitis in Doberman Pinschers. J. Vet. Intern. Med. 18: 647-650.
34. Thornburg, L.P., G. Rottinghaus, G. Dennis, et al. 1996. The relationship between hepatic copper content and morphologic changes in the liver of West Highland White Terriers. Vet. Pathol. 33: 656-661.
35. Webb, C.B., D.C. Twedt & D.J. Meyer . 2002. Copper-associated liver disease in Dalmatians: a review of 10 dogs (1998-2001). J. Vet. Intern. Med. 16: 665-668.
36. Poldervaart, J.H., R.P. Favier, L.C. Penning, et al. 2009. Primary hepatitis in dogs: a retrospective review (2002-2006). J. Vet. Intern. Med. 23: 72-80.
37. Twedt, D.C., I. Sternlieb & S.R. Gilbertson . 1979. Clinical, morphologic, and chemical studies on copper toxicosis of Bedlington Terriers. J. Am. Vet. Med. Assoc. 175: 269-275.
38. Puls, R. 1994. Mineral Concentrations in Animal Health. Clearbrook, BC, Canada: Sherpa International.
39. Speeti, M., J. Eriksson, S. Saari, et al. 1998. Lesions of subclinical doberman hepatitis. Vet. Pathol. 35: 361-369.
40. Appleman, E.H., R. Cianciolo, A.S. Mosenco, et al. 2008. Transient acquired fanconi syndrome associated with copper storage hepatopathy in 3 dogs. J. Vet. Intern. Med. 22: 1038-1042.
41. Hill, T.L., E.B. Breitschwerdt, T. Cecere, et al. 2008. Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog. J. Vet. Intern. Med. 22: 219-222.
42. Langlois, D.K., R.C. Smedley, W.D. Schall, et al. 2013. Acquired proximal renal tubular dysfunction in 9 Labrador retrievers with copper-associated hepatitis (2006-2012). J. Vet. Intern. Med. 27: 491-499.
43. Fischer, A.H., K.A. Jacobson, J. Rose, et al. 2008. Hematoxylin and eosin staining of tissue and cell sections. CSH Protoc. 2008: pdb.prot4986.
44. Gordon, H. & H.H. Sweets . 1936. A simple method for the silver impregnation of reticulum. Am. J. Pathol. 12: 545-552.1.
45. Uzman, L.L. 1956. Histochemical localization of copper with rubeanic acid. Lab. Invest. 5: 299-305.
46. Irons, R.D., E.A. Schenk & J.C. Lee . 1977. Cytochemical methods for copper. Semiquantitative screening procedure for identification of abnormal copper levels in liver. Arch. Pathol. Lab. Med. 101: 298-301.
47. Bode, P. 1990. Instrumental neutron activation analysis in a routine way. J. Trace Microprobe Tech. 8: 139-154.
48. Fieten, H., S. Hugen, T.S. Van Den Ingh, et al. 2013. Urinary excretion of copper, zinc and iron with and without D-penicillamine administration in relation to hepatic copper concentration in dogs. Vet. J. 2: 468-473.
49. Allen, K.G., D.C. Twedt & H.A. Hunsaker . 1987. Tetramine cupruretic agents: a comparison in dogs. Am. J. Vet. Res. 48: 28-30.
50. Twedt, D.C., H.A. Hunsaker & K.G. Allen . 1988. Use of 2, 3, 2-tetramine as a hepatic copper chelating agent for treatment of copper hepatotoxicosis in Bedlington terriers. J. Am. Vet. Med. Assoc. 192: 52-56.
51. Fieten, H., K. Dirksen, T.S.G.A.M. Van Den Ingh, et al. 2013. D-penicillamine treatment of copper associated hepatitis in Labrador retrievers. Vet. J. 3: 522-527.
52. Fieten, H., B.D. Hooijer-Nouwens, V.C. Biourge, et al. 2012. Association of dietary copper and zinc levels with hepatic copper and zinc concentration in Labrador retrievers. J. Vet. Intern. Med. 26: 1274-1280.
53. Fieten, H., V. Biourge, A. Watson, et al. 2014. Nutritional management of inherited copper-associated hepatitis in the Labrador retriever. Vet. J. 199: 429-433.
54. Shih, J.L., J.H. Keating, L.M. Freeman, et al. 2007. Chronic hepatitis in Labrador retrievers: clinical presentation and prognostic factors. J. Vet. Intern. Med. 21: 33-39.
55. Smedley, R., T. Mullaney & W. Rumbeiha . 2009. Copper-associated hepatitis in Labrador retrievers. Vet. Pathol. 46: 484-490.
56. Johnston, A.N., S.A. Center, S.P. McDonough, et al. 2013. Hepatic copper concentrations in Labrador retrievers with and without chronic hepatitis: 72 cases (1980-2010). J. Am. Vet. Med. Assoc. 242: 372-380.
57. Cordell, H.J. & D.G. Clayton . 2005. Genetic association studies. Lancet 366: 1121-1131.
58. Shearin, A.L. & E.A. Ostrander . 2010. Leading the way: canine models of genomics and disease. Dis. Model. Mech. 3: 27-34.
59. Lindblad-Toh, K., C.M. Wade, T.S. Mikkelsen, et al. 2005. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature. 438: 803-819.
60. Kenney, G.E. & A.C. Rosenzweig . 2012. Chemistry and biology of the copper chelator methanobactin. ACS Chem. Biol. 7: 260-268.