DonateMenkes Disease
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Menkes Disease
Mutation
c.980C>T
Mutation 2
g.60279238C>T
Mutation 3
p.T327I
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.
Breed Specific Info
Researched Breeds
Labrador Retriever
