- Gene
- COMMD1 (Bedlington Terrier)
- Variant
- COMMD1 deletion, gross (>20)
- Inheritance
- autosomal recessive
- OMIA
- OMIA001988 9615
Molecular mechanism
Copper toxicosis is an inherited disorder of copper metabolism that causes excessive copper accumulation within the liver, leading to progressive liver damage. Affected dogs are often clinically normal when young despite increasing hepatic copper levels, with signs such as lethargy, vomiting, weight loss, jaundice and behavioural changes developing as liver disease progresses (Su et al., 1982; Washabau, 2013). Histological changes are initially absent despite copper accumulation, making early disease difficult to detect without genetic testing or liver biopsy (Washabau, 2013).
COMMD1 test (Bedlington Terrier): An autosomal recessive 39.7 kb deletion affecting the COMMD1 gene is a well-established cause of copper toxicosis in Bedlington Terriers (Forman et al., 2005). Genetic testing identifies affected and carrier dogs and remains an important breeding tool. However, not all cases of copper toxicosis in Bedlington Terriers are explained by the COMMD1 deletion, so a normal result does not exclude all forms of the disease (Haywood et al., 2023).
References
References
Haywood, S., Swinburne, J., Schofield, E., Constantino-Casas, F., Watson, P. : Copper toxicosis in Bedlington terriers is associated with multiple independent genetic variants.Vet Rec 193:e2832, 2023. Pubmed reference: 37038639. DOI: 10.1002/vetr.2832.
Washabau, R.J. : Chapter 61 – Liver.Canine and Feline Gastroenterology, R.J. Washabau \u0026amp; M.J. Day (Ed.), W.B. Saunders. :890-891, 2013.
Forman, OP., Boursnell, ME., Dunmore, BJ., Stendall, N., van den Sluis, B., Fretwell, N., Jones, C., Wijmenga, C., Rothuizen, J., van Oost, BA., Holmes, NG., Binns, MM., Jones, P. : Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers.Anim Genet 36:497-501, 2005. Pubmed reference: 16293123. DOI: 10.1111/j.1365-2052.2005.01360.x.
Su, L.C., Ravenshad, S., Owen, C.A., McCall, J.T., Zollman, P.E., Hardy, R.M. : A comparison of copper-loading disease in Bedlington Terriers and Wilson\u0026#39;s disease in humansAm J Physiol 243:G226-30, 1982. Pubmed reference: 7114265. DOI: 10.1152/ajpgi.1982.243.3.G226.