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Copper Toxicosis, ATP7B Type
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Copper Toxicosis, ATP7B Type
OMIA
1071
Gene Name
ATP7B
Mutation
c.179-36.6kb_458+2.9kbdel39.8k
Test Type
Genetic Disease/Disorder
Details
Copper Toxicosis is a hereditary disease in which failure of the liver to expel dietary copper leads to a build-up of this toxic metal causing illness and death. It should be noted that there can be other, non-hereditary causes of copper built-up. In addition, it is possible there are breed-specific forms of these diseases where the mutations responsible have not yet been identified. In this form ATP7B causes the copper accumulation. Some tests also offer to test for ATP7A, which can help minimize the accumulation of copper. Not to be confused with the COMMD-1 form of copper toxicosis. See also: Menkes Disease.
Details 2
A disorder of copper metabolism, due to a deficiency of ceruloplasmin, which forms a complex with copper. The excess copper is deposited in the brain (causing mental retardation) or the liver (causing jaundice and cirrhosis). The primary cause of copper toxicosis in Labrador Retrievers is a mutant form of ATP7B. Dogs that inherit two normal versions of the gene (one from each parent) will have normal levels of copper in their livers. Dogs that inherit one normal copy and one mutant copy will have somewhat elevated levels of copper in their liver, while those that inherit two mutant copies will have the highest levels. A second gene involved in the Labrador disease is a mutated form of ATP7A. This mutation helps minimize the accumulation of copper in the liver, and is X-linked Recessive. Males only need to inherit one copy of the mutant gene to help with their copper levels, while females need to inherit two. See also: Menkes Disease.
Published
Haywood, S., Boursnell, M., Loughran, M.J., Trafford, J., Isherwood, D., Liu, X., Olohan, L., Carter, S.D. : Copper toxicosis in non-COMMD1 Bedlington terriers is associated with metal transport gene ABCA12. J Trace Elem Med Biol 35:83-9, 2016. Pubmed reference: 27049130. DOI: 10.1016/j.jtemb.2016.01.015.
Published 2
Fieten, H., Gill, Y., Martin, A.J., Concilli, M., Dirksen, K., van Steenbeek, F.G., Spee, B., van den Ingh, T.S., Martens, E.C., Festa, P., Chesi, G., van de Sluis, B., Houwen, R.H., Watson, A.L., Aulchenko, Y.S., Hodgkinson, V.L., Zhu, S., Petris, M.J., Polishchuk, R.S., Leegwater, P.A., Rothuizen, J. : The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech 9:25-38, 2016. Pubmed reference: 26747866. DOI: 10.1242/dmm.020263.
Body/System/Process
Metabolic
OMIA Url
Inheritance
RV, X
