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Mucopolysaccharidosis Type VI Modifier

Mucopolysaccharidosis Type VI Modifier causes a mild degenerative joint disease, but only if one copy of Mucopolysaccharidosis Type VI is also present.

Found in

1 in 30 cats

in our testing

Key Signs

Degenerative joint disease

Age of Onset

3 to 7 yrs

Adult to mature onset

Inheritance

Modifier

Genetic modifiers do not cause disease on their own but can cause disease or change the onset or severity of a disease when combined with another genetic disease variant. For some modifier variants only one copy is required to cause an effect, for others two copies are required.

Likelihood of the Condition

Low-moderate likelihood

At risk cats may show signs of this disease in their lifetime, although many will not develop the condition due to absence of additional risk factors.

What to Do

Here’s how to care for a cat with MPSVI

Partner with your veterinarian to make a plan regarding your cat’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about MPSVI

Mucopolysaccharidosis Type VI is a lysosomal storage disease caused by a deficiency of an enzyme which is essential in breaking down dermatan and chondroitin sulfates. Cats with one copy of the Mucopolysaccharidosis Type VI Modifier variant (also referred to as the G1558A mutation) and one copy of the Mucopolysaccharidosis Type VI variant (known as the T1427C mutation) display a mild form of the disease expressed as a higher incidence of degenerative joint disease than that experienced by non-affected cats. Clinical signs of disease have not been associated with cats who have one or two copies of the modifier variant (G1558A mutation) and zero copies of the Mucopolysaccharidosis Type VI variant (T1427C mutation). These cats have a normal physical appearance and exhibit normal growth. An incidental finding of increased granularity within white blood cells of cats with two copies of the Mucopolysaccharidosis Type VI Modifier variant has been reported with unknown clinical relevance.

For cats who inherit only the modifier variant, and zero copies of the Mucopolysaccharidosis Type VI variant, no treatment is indicated as clinical signs are unlikely to develop. This applies to cats with one or two copies of the modifier variant. For cats who inherit one copy of both the Mucopolysaccharidosis Type VI Modifier variant and the Mucopolysaccharidosis Type VI variant, maintaining a healthy weight is important in reducing pain associated with degenerative joint disease. Modifications should be made to the environment, such as providing steps or ramps to favorite resting places, soft bedding, litter pans with low sides, litter pans on each floor of the house, and accessible food and water bowls. Medications for pain management and nutraceuticals may be indicated.

For Breeders

Planning to breed a cat with this genetic variant?

There are many responsibilities to consider when breeding cats. Regardless of test results it is important that your cat is in good general health and that you are in a position to care for the kittens if new responsible owners are not found. For first time or novice breeders, advice can be found at most cat registry websites.

Current understanding is that a cat with one or two copies of the modifier variant can be safely bred with a cat with zero, one or two copies of the modifier variant, as long as both cats are clear for the Mucopolysaccharidosis Type VI variant. Please note: It is possible that disease signs similar to the ones caused by the Mucopolysaccharidosis Type VI variant could develop due to a different genetic or clinical cause.

Technical Details

Gene ARSB
Variant G>A
Chromosome A1
Coordinate 145,138,738

All coordinates reference FelCat9.0

References & Credit

Credit to our scientific colleagues:

Crawley, A. C., Yogalingam, G., Muller, V. J., & Hopwood, J. J. (1998). Two Feline Mucopolysaccharidosis Type VI Mutations with Three Phenotypes Two Mutations within a Feline Mucopolysaccharidosis Type VI Colony Cause Three Different Clinical Phenotypes. In J. Clin. Invest (Vol. 101, Issue 1). http://www.jci.org [View the article](https://doi.org/10.1172/JCI935, https://doi.org/10.1172/JCI935)