Genetic Test
The GUSB (Beta-glucuronidase) gene encodes the enzyme beta-glucuronidase, which is responsible for breaking down specific components of mucopolysaccharides—complexes of proteins and polysaccharides.
Mucopolysaccharides play a vital role in maintaining connective tissue integrity in the body.
Beta-glucuronidase regulates the degradation of mucopolysaccharides to prevent their excessive accumulation, thereby maintaining a balanced turnover.
This genetic test targets two specific mutations in the GUSB gene associated with Mucopolysaccharidosis type VII (MPS VII), a lysosomal storage disorder characterized by accumulation of undegraded mucopolysaccharides.
Disease Description
Mucopolysaccharidosis (MPS) is a type of lysosomal storage disease caused by the abnormal accumulation of mucopolysaccharides within cells.
In humans, MPS is classified into types 1 through 11, while in dogs, type VII is the most commonly reported.
This disorder primarily results from a deficiency of enzymes necessary for mucopolysaccharide degradation, leading to excessive buildup of these substances in various cell types throughout the body—including the liver, skin, muscles, bone marrow, and white blood cells.
Clinically, skeletal abnormalities are among the most prominent signs observed in affected animals.
Due to the progressive and severe nature of the disease, euthanasia is often recommended for humane reasons.
