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Description
Mucopolysaccharidosis type IIIB (MPS IIIB) is a hereditary disease associated with a deficiency of a number of enzymes and the accumulation of heparan sulfate in cell lysosomes. Therefore, MPS IIIB is also classified as a disease of lysosomal storage.
Mucopolysaccharidoses are a group of severe metabolic diseases caused by the absence or lack of lysosome enzymes necessary for the cleavage of glycosaminoglycans (GAGs). GAGs are long unbranched polysaccharide chains, formerly called mucopolysaccharides. These vital molecules are involved in the construction of bones, cartilage, tendons, cornea, skin, connective tissue, and are also part of the inter-articular fluid. The absence or dysfunction of one of the enzymes leads to the accumulation of the GAG in the cleavage of which it is involved, and the subsequent destruction of cells. Type IIIB MPS in Schipperke is caused by a mutation in the gene for the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). The disrupted enzyme is unable to break down its target, GAG heparan sulfate, which leads to the accumulation of the latter in lysosomes. Clinical signs of the disease usually begin to appear between the ages of two and four. MPS IIIB estimates that about 15% of Schipperke dogs are affected.
Symptoms
Tremor, lack of coordination, it becomes difficult for the dog to overcome obstacles. The disease is progressive. An effective treatment has not yet been developed.
Diagnostics
A genetic test has been developed for the diagnosis of MPS IIIB Schipperke. Research can be done at any age. When testing, a mutation in DNA is analyzed, leading to the development of a disease. A DNA test allows you to identify a defective (mutant) and normal copy of a gene. The test result is the definition of the genotype, which allows you to divide animals into three groups: healthy (homozygotes for a normal copy of the gene), carriers (heterozygotes, carry one normal and one defective copy of the gene) and patients (homozygotes for the mutation, carry two defective copies of the gene) ... The carriers are healthy and show no signs of MPS IIIB.
Performing a DNA test will reduce the frequency of sick dogs being born.
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