Pathological characteristics of mucopolysaccharidosis VI in the rat.

The histological and electron microscopical characteristics of the pathology of rats with arylsulphatase B-deficient mucopolysaccharidosis (mucopolysaccharidosis VI; MPS VI) were investigated. In affected animals, intracytoplasmic vacuoles were prominent in chondrocytes, the macrophage system, cardiac valve fibroblasts, cornea, connective tissues, vascular smooth muscle cells and uterine stromal cells. Tissues containing glucosaminoglycans stored in lysosomes were positive to Mowry's colloidal iron and alcian blue stains. By electron microscopy, the lysosomes were seen to be distended by electron lucent or fine fibrillary storage material, and lysosomal storage was also detected in the endothelial cells of the arteries and cornea. In the central and peripheral nervous system abnormalities were restricted to the connective tissue. Lesions in the affected rats resembled those described in human and feline mucopolysaccharidosis VI. These results indicate that MPS VI of the rat may be a useful animal model for human MPS VI (Maroteaux-Lamy syndrome).