Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI

Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8214-9. doi: 10.1073/pnas.93.16.8214.

Abstract

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the enzyme arylsulfatase B (ASB), which is involved in degradation of dermatan sulfate and chondroitin 4-sulfate. A MPS VI mouse model was generated by targeted disruption of the ASB gene. Homozygous mutant animals exhibit ASB enzyme deficiency and elevated urinary secretion of dermatan sulfate. They develop progressive symptoms resembling those of MPS VI in humans. Around 4 weeks of age facial dysmorphia becomes overt, long bones are shortened, and pelvic and costal abnormalities are observed. Major alterations in bone formation with perturbed cartilaginous tissues in newborns and widened, perturbed, and persisting growth plates in adult animals are seen. All major parenchymal organs show storage of glycosaminoglycans preferentially in interstitial cells and macrophages. Affected mice are fertile and mortality is not elevated up to 15 months of age. This mouse model will be a valuable tool for studying pathogenesis of MPS VI and may help to evaluate therapeutical approaches for lysosomal storage diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Bone and Bones / pathology
  • Cartilage / pathology
  • Chondro-4-Sulfatase / deficiency
  • Chondro-4-Sulfatase / genetics*
  • Disease Models, Animal
  • Genes
  • Glycosaminoglycans / metabolism
  • Mice
  • Mice, Knockout
  • Microscopy, Electron
  • Molecular Sequence Data
  • Mucopolysaccharidosis VI / genetics
  • Mucopolysaccharidosis VI / metabolism*
  • Mucopolysaccharidosis VI / pathology
  • Phenotype
  • Restriction Mapping

Substances

  • Glycosaminoglycans
  • Chondro-4-Sulfatase

Associated data

  • GENBANK/X92096