Lysosomal Storage Diseases

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Advantages The model reflects the disease pathology of MPS-1 (Hurler syndrome) and provides an in vivo model for testing novel therapeutic strategies Technology Details Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α–L– iduronidase (IDUA).  IDUA is a ubiquitously expressed enzyme that is required for glycosaminoglycan (GAG) degradation.  The IDUA deficiency in MPS disorders leads to lysosomal accumulation of GAGs in various tissues including neurons, glial cells, hepatocytes, the entire reticulo-endothelial system, renal cells and osteoblasts. Researchers at the University of British Columbia have generated IDUA-deficient mice by gene targeting in murine embryo stem cells. The clinical features and pathological findings of this model reflect the spectrum of MPS-1in humans including increased urinary GAG excretion and lysosomal storage pathology.  The mouse model is well suited for the development and testing of novel therapeutics for MPS-1. Technology Category ·         Research Tools: Animal Models Principal Inventor(S) Dr. Lorne Clarke, BSc, MDCM, FRCPC, FCCMG, Professor, Medical Genetics. Publications/References Clarke L.A., Russel C.S., Pownall S., Warrington C.L., Borowski A., Dimmick J.E., Toone J., Jirik F.R. Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene. Hum Mol Genet 1997 Apr: 6(4):503-511. Russell, C., Hendson, G., Jevon, G., Matlock, T., Yu, J., Aklujkar, M., Ng, K., Clarke, L.A. Murine MPS I: insights into the pathogenesis of Hurler syndrome.  Clin Genet 1998 May: 53(5): 349-361 Development Stage The disease phenotype of the mouse model has been well characterized.  The model is available for non-exclusive licensing.  Patent Status n/a Reference #96-037