Testing of dogs: Alpha mannosidosis

Usual turnaround time: 12 business days
1 test price: 56.00 $ without VAT

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 mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

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

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Usual turnaround time: 12 business days
1 test price: 56.00 $ without VAT