Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII.

ABSTRACT: The lysosomal storage disease MPS VII (mucopolysaccharidosis type VII) is caused by a deficiency in beta-glucuronidase activity, and results in the accumulation of partially degraded glycosaminoglycans in many cell types. Although MPS VII is a simple monogenetic disorder, the clinical presentation is complex and incompletely understood. ERT (enzyme replacement therapy) is relatively effective at improving the clinical course of the disease; however, some pathologies persist. In order to clarify the molecular events contributing to the disease phenotype and how ERT might impact upon them, we analysed liver tissue from untreated and treated MPS VII mice at both 2 and 5 months of age using biochemical assays and microarray analysis. Overall, as the disease progresses, more genes have altered

SUBMITTER: Woloszynek JC 

PROVIDER: S-EPMC1224072 | biostudies-literature | 2004 Apr

REPOSITORIES: biostudies-literature