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

• Published in: Annals of the New York Academy of Sciences 2014-05, Vol.1314 (1), p.42-48
• Main Authors: Fieten, Hille, Penning, Louis C., Leegwater, Peter A.J., Rothuizen, Jan
• Format: Article
• Language: English
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Animals; Chromosome Deletion; Copper; Copper - therapeutic use; Copper - toxicity; Diagnosis; Disease Models, Animal; dog; Dog Diseases - diagnosis; Dog Diseases - drug therapy; Dog Diseases - genetics; Dogs; Female; Genes; Genetic Predisposition to Disease; Genetics; Genome-Wide Association Study; Health; Hepatitis, Animal - etiology; Human; liver; Liver - metabolism; Liver Cirrhosis - genetics; Liver Cirrhosis - veterinary; Male; Metal Metabolism, Inborn Errors - genetics; Metal Metabolism, Inborn Errors - veterinary; Mutations; One Health; Penicillamine - adverse effects; Penicillamine - therapeutic use; Recognition
• ISSN: 0077-8923; 1749-6632
• DOI: 10.1111/nyas.12442

The One Health principle recognizes that human health, animal health, and environmental health are inextricably linked. An excellent example is the study of naturally occurring copper toxicosis in dogs to help understand human disorders of copper metabolism. Besides the Bedlington terrier, where copper toxicosis is caused by a mutation in the COMMD1 gene, more complex hereditary forms of copper‐associated hepatitis were recognized recently in other dog breeds. The Labrador retriever is one such breed, where an interplay between genetic susceptibility and exposure to copper lead to clinical copper toxicosis. Purebred dog populations are ideal for gene mapping studies, and because genes involved in copper metabolism are highly conserved across species, newly identified gene mutations in the dog may help unravel the genetic complexity of different human forms of copper toxicosis. Furthermore, increasing knowledge with respect to diagnosis and treatment strategies will benefit both species.