Mouse Model for Mucopolysaccharidosis type I (MPSI)
IDUA knockout mouse for the study of lysosomal storage diseases
- The model reflects the disease pathology of MPS-1 (Hurler syndrome) and provides an in vivo model for testing novel therapeutic strategies
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.