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Menkes Disease

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds

General

Disease Name
Menkes Disease
Mutation
c.980C>T
Mutation 2
g.60279238C>T
Test Type
Genetic Disease/Disorder
Details
Menkes disease is characterized by neurological deterioration caused by accumulation of copper in the intestine and kidneys and low copper levels in the liver and brain. The disorder causes severe brain degeneration and arterial changes, resulting in death in infancy. However, the mutation of ATP7A may have a protective or beneficial aspect for dogs with the mutation of ATP7B. See: Copper Toxicosis ATP7B Type.
Details 2
Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation... (From Fieten et al, 2016) However, the mutation of ATP7A may have a protective or beneficial aspect for dogs with the mutation of ATP7B. See: Copper Toxicosis ATP7B Type.
Published
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.
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