Selective neurodegeneration in murine mucopolysaccharidosis VII is progressive and reversible

Ann Neurol. 2002 Dec;52(6):762-70. doi: 10.1002/ana.10373.

Abstract

The mucopolysaccharidoses are caused by inherited deficiencies of lysosomal enzymes involved in the degradative pathway of glycosaminoglycans. Lysosomal storage leads to cellular and organ dysfunction, including mental retardation. Storage lesions are found throughout the diseased brain, but little is known about the cellular and molecular mechanisms that underlie brain dysfunction. In the mouse model of mucopolysaccharidosis VII, we found that specific regions of the brain are vulnerable to neurodegeneration, characterized by the presence of ubiquitin inclusions, neurofilament inclusions, and reactive astrogliosis. The pathological lesions were found predominantly in the hippocampus and cerebral cortex, and they increased progressively with age. Treatment with a recombinant viral vector to correct the enzymatic defect quantitatively reversed the neurodegenerative lesions in targeted regions to normal levels.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Brain / drug effects
  • Brain / pathology*
  • Disease Progression
  • Genetic Vectors / pharmacology
  • Genetic Vectors / therapeutic use
  • Inclusion Bodies / drug effects
  • Inclusion Bodies / pathology
  • Mice
  • Mice, Inbred C3H
  • Mice, Mutant Strains
  • Mucopolysaccharidosis VII / drug therapy*
  • Mucopolysaccharidosis VII / genetics
  • Mucopolysaccharidosis VII / pathology*
  • Neurodegenerative Diseases / drug therapy*
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / pathology*
  • Ubiquitin / analysis
  • Vaccines, Synthetic / pharmacology
  • Vaccines, Synthetic / therapeutic use

Substances

  • Ubiquitin
  • Vaccines, Synthetic