Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease

Eur J Neurosci. 2009 Mar;29(6):1197-214. doi: 10.1111/j.1460-9568.2009.06666.x.

Abstract

Mucopolysaccharidosis type IIIA is a neurodegenerative lysosomal storage disorder characterized by progressive loss of learned skills, sleep disturbance and behavioural problems. Absent or greatly reduced activity of sulphamidase, a lysosomal protein, results in intracellular accumulation of heparan sulphate. Subsequent neuroinflammation and neurodegeneration typify this and many other lysosomal storage disorders. We propose that intra-cerebrospinal fluid protein delivery represents a potential therapeutic avenue for treatment of this and other neurodegenerative conditions; however, technical restraints restrict examination of its use prior to adulthood in mice. We have used a naturally-occurring Mucopolysaccharidosis type IIIA mouse model to determine the effectiveness of combining intravenous protein replacement (1 mg/kg) from birth to 6 weeks of age with intra-cerebrospinal fluid sulphamidase delivery (100 microg, fortnightly from 6 weeks) on behaviour, the level of heparan sulphate-oligosaccharide storage and other neuropathology. Mice receiving combination treatment exhibited similar clinical improvement and reduction in heparan sulphate storage to those only receiving intra-cerebrospinal fluid enzyme. Reductions in micro- and astrogliosis and delayed development of ubiquitin-positive lesions were seen in both groups. A third group of intravenous-only treated mice did not exhibit clinical or neuropathological improvements. Intra-cerebrospinal fluid injection of sulphamidase effectively, but dose-dependently, treats neurological pathology in Mucopolysaccharidosis type IIIA, even when treatment begins in mice with established disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Analysis of Variance
  • Animals
  • Antibodies / administration & dosage
  • Body Weight / drug effects
  • Body Weight / genetics
  • Brain / enzymology
  • Chromatography, High Pressure Liquid / methods
  • Disease Models, Animal
  • Dose-Response Relationship, Drug
  • Drug Administration Routes
  • Exploratory Behavior / drug effects
  • Exploratory Behavior / physiology
  • Heparitin Sulfate / administration & dosage
  • Hydrolases / administration & dosage*
  • Hydrolases / immunology
  • Lysosomal Storage Diseases / drug therapy*
  • Lysosomal Storage Diseases / genetics
  • Lysosomal Storage Diseases / physiopathology*
  • Male
  • Maze Learning / drug effects
  • Maze Learning / physiology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mucopolysaccharidosis III / genetics
  • Mucopolysaccharidosis III / metabolism
  • Necrosis / drug therapy
  • Necrosis / etiology
  • Proteins / administration & dosage*
  • Proteins / immunology
  • Tandem Mass Spectrometry / methods
  • Time Factors

Substances

  • Antibodies
  • Proteins
  • lysosomal proteins
  • Heparitin Sulfate
  • Hydrolases
  • N-sulfoglucosamine sulfohydrolase