Testing of cats: Mannosidosis

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

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Alpha-Mannosidose bei der Perserkatze

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 symptoms include neurological signs (ataxia, head tremor, nystagmus, aggressiveness, paralysis), skeletal abnormalities, growth retardation, gingivitis, and corneal and lenticular opacities. Death occurs after about 6 months because of untreated disease.

In the Persian cat, the disease is caused by mutation c.1749_1752del 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 kittens.

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References:

Berg, T., Tollersrud, O.K., Walkley, S.U., Siegel, D., Nilssen, O. : Purification of feline lysosomal alpha-mannosidase, determination of its cdna sequence and identification of a mutation causing alpha-mannosidosis in Persian cats Biochemical Journal 328:863-870, 1997. Pubmed reference: 9396732

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