Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options |
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| Authors: | Oussoren E Brands M M M G Ruijter G J G der Ploeg A T van Reuser A J J |
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| Affiliation: | Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC-Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands. |
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| Abstract: | The mucopolysaccharidoses (MPS) are prominent among the lysosomal storage diseases. The intra-lysosomal accumulation of glycosaminoglycans (GAGs) in this group of diseases, which are caused by several different enzyme deficiencies, induces a cascade of responses that affect cellular functions and maintenance of the extra-cellular matrix. Against the background of normal tissue-specific processes, this review summarizes and discusses the histological and biochemical abnormalities reported in the bones, joints, teeth and extracellular matrix of MPS patients and animal models. With an eye to the possibilities and limitations of reversing the pathological changes in the various tissues, we address therapeutic challenges, and present a model in which the cascade of pathologic events is depicted in terms of primary and secondary events. |
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