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Cat Mucopolysaccharidosis I
| Acronym: | MPS1 |
| Gene: | IDUA |
| Mutation: | c.1042_1044del |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Mucopolysaccharidosis is a genetic lysosomal storage disease that is a result of defects in glycosaminoglycan (GAG) metabolism. Several types of mucopolysaccharidosis have been described in humans so far and two of those subclasses, MPS I and MPS VI, have been described in cats too. Both types are associated with enzyme deficiencies resulting in the accumulation of partially degraded GAGs within lysosomes. Mucopolysaccharidosis Type I (MPS I) affects cats at an early age, with just a few weeks of age, and causes mental retardation and other neurological symptoms often resulting in euthanasia. Type I of cat mucopolysaccharidosis is a consequence of a small deletion within the α-iduronidase (IDUA) gene that encodes an enzyme essential for the breakdown of large sugar molecules.
This type of lysosomal storage disease found in cats is inherited as an autosomal recessive trait meaning both mutated IDUA genes are required for the disease to develop. Cats with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early genetic testing can help identify cats that carry the gene with the specific mutation and help breeders in the proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
He, X., Li, C. M., Simonaro, C. M., Wan, Q., Haskins, M. E., Desnick, R. J., Schuchman, E. H. (1999). Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Molecular genetics and metabolism, 67(2), 106–112. https://doi.org/10.1006/mgme.1999.2860
Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Desnick, R. J., Patterson, D. F. (1983). The pathology of the feline model of mucopolysaccharidosis I. The American journal of pathology, 112(1), 27–36.
Lischka, F. W., Gomez, G., Yee, K. K., Dankulich-Nagrudny, L., Lo, L., Haskins, M. E., Rawson, N. E. (2008). Altered olfactory epithelial structure and function in feline models of mucopolysaccharidoses I and VI. The Journal of comparative neurology, 511(3), 360–372. https://doi.org/10.1002/cne.21847