
Testing of dogs: Alpha mannosidosis
Alfa-mannosidosis in Dobermans
Alpha-mannosidosis is a lysosomal storage disease. Mannose-rich compounds accumulate in lysosomes due to a deficiency of the enzyme alpha-mannosidase, which is necessary for the degradation of glycoproteins. Clinical signs include neurological deficits (ataxia, head tremor, aggressive behaviour, paralysis) and lead to premature death.
In Dobermans, the disease is caused by a c.311A>G missense mutation in the MAN2B1 gene, which encodes a lysosomal alpha-mannosidase.
The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.
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References:
Bullock, G., Johnson, G.S., Pattridge, S.G., Mhlanga-Mutangadura, T., Guo, J., Cook, J., Campbell, R.S., Vite, C.H., Katz, M.L. : A homozygous MAN2B1 missense mutation in a Doberman Pinscher dog with neurodegeneration, cytoplasmic vacuoles, autofluorescent storage granules, and an α-mannosidase deficiency. Genes (Basel) 14:1746, 2023. Pubmed reference: 37761886