Murine mucopolysaccharidosis VII: Impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease

Carole Vogler, Jane Barker, Mark S. Sands, Beth Levy, Nancy Galvin, William S. Sly

Research output: Contribution to journalReview article

34 Scopus citations

Abstract

The mucopolysaccharidoses are a group of lysosomal storage diseases caused by deficiency of an enzyme required for the normal degradation of glycosaminoglycans. Patients with mucopolysaccharidosis typically have widespread lysosomal storage, skeletal and central nervous system disease, and hepatosplenomegaly. Some patients with mucopolysaccharidosis may benefit from enzyme replacement therapy or bone marrow transplantation. Animal models of mucopolysaccharidosis have proven valuable for the evaluation of the effectiveness of potential treatments for patients with lysosomal storage disease. A murine model of MPS VII (Sly syndrome) has proven particularly useful because of its well-defined genetics and its well-characterized clinical, pathologic, and biochemical alterations, which resemble those seen in patients with mucopolysaccharidosis. Correction of these alterations forms the basis for evaluation of the effectiveness of novel treatments. A wide range of therapies have been tested using this model, including enzyme replacement therapy, bone marrow, stem cell, and neural progenitor cell transplantation, and a variety of viral-mediated gene therapies. The inferences drawn from these therapeutic studies using the murine MPS VII model are likely generalizable to other lysosomal storage diseases.

Original languageEnglish
Pages (from-to)421-433
Number of pages13
JournalPediatric and Developmental Pathology
Volume4
Issue number5
DOIs
StatePublished - Sep 12 2001

Keywords

  • Bone marrow transplantation
  • Enzyme replacement therapy
  • Gene therapy
  • Lysosomal storage disease
  • Mucopolysaccharidosis type VII

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