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Copper levels in the body are regulated by copper intake from food and by copper secretion from certain parts of the body (the bile ducts).
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Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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Copper levels in the body are regulated by copper intake from food and by copper secretion from certain parts of the body (the bile ducts). Two proteins, ATP7A and ATP7B, are responsible to maintain normal copper levels in the body. ATP7A is expressed in intestinal cells and transports copper to the liver where it is stored whereas ATP7B is expressed in liver cells but also in brain cells and secretes the copper into the bile ducts. A mutation in the ATP7A gene leads to a copper deficiency in the body which is called Menkes disease. In addition, a mutation in the ATP7B gene leads to copper accumulation in the body which is called Wilson disease.
Labrador Retrievers with mutations in both genes can have varied copper levels depending upon the combination of the alleles and environmetal factors. Literature suggests that these combinations can have an attenuated effect on copper level changes in the body. This means that dogs with these genotypes will likely be unaffected.
The ATP7B mutation appears to be inherited as an incomplete dominant condition, and is associated with decreased ceruloplasminbound copper and increased non-ceruloplasmin-bound copper in the blood. Both carrier and affected dogs for this mutation are at increased risk of developing copper toxicosis. The risk is highest for affected dogs. Defects in the ATP7B protein influence copper transportation, which can result in liver cirrhosis and neuronal degeneration with a variable age of onset. In addition, disease severity is also depending on the copper intake levels from the diet.
For Labrador Retrievers it is suggested that copper levels depend on the genotypes for both ATP7A and ATP7B. Therefore, it is recommended to test Labradors for both Menkes and Wilson disease.
Pubmed ID: 26747866
Omia ID: 1071