Testing of cats: Mucopolysaccharidosis VI

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

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Mucopolysaccharidosis VI in Siamese cats

Mucopolysaccharidosis VI is a lysosomal storage disease characterized by intracellular accumulation of mucopolysaccharides (dermatan sulphate). The accumulation of mucopolysaccharides results in cellular and organ dysfunction. It results from a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.

Clinical signs first appear at 6 to 8 weeks of age and include growth retardation, facial dysmorphia (wide cheeks with shortened nose and small ears), skeletal deformities, decreased flexibility of the cervical and lumbar spine, and degenerative joint disease. Affected cats may develop hind limb paresis due to spinal cord compression before the age of 8 months. The disease is also accompanied by corneal clouding and thickening of the heart valve.

The disease is caused by a missense mutation c.1558G>A in the ARSB gene, which encodes the enzyme arylsulfatase B.

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:

Crawley, A.C., Yogalingam, G., Muller, V.J., Hopwood, J.J. : Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes Journal of Clinical Investigation 101:109-119, 1998. Pubmed reference: 9421472.

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