Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator.
The mucopolysaccharidoses (MPSs) are a series of rare genetic disorders in which progressive bone and joint disease represents a key source of morbidity for patients. The recent introduction of enzyme replacement therapy for many of the MPSs has led to a need for increased physician awareness of these rare conditions in order to ensure that treatment is initiated at a time that leads to optimal benefit for patients. In addition, the current experiences of the clinical responsiveness of patient's symptoms to enzyme replacement approaches have also fuelled an interest in the development of alternative and adjunctive therapeutic approaches directed particularly to the rheumatological aspects of disease. Understanding the underlying pathogenesis of the MPSs is a key element for advancements in both of these areas. This review highlights the current knowledge underlying the pathophysiology of disease symptoms in the MPSs and underscores the importance and role of pathogenic cascades.
Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. lclarke@cfri.ca
Lorne A
LA
Clarke
D000818:Animals; D001847:Bone Diseases / Q000209:etiology* / Q000378:metabolism; D004195:Disease Models, Animal; D006025:Glycosaminoglycans / Q000378:metabolism* / Q000502:physiology; D006801:Humans; D007592:Joint Diseases / Q000209:etiology* / Q000378:metabolism; D009083:Mucopolysaccharidoses / Q000209:etiology* / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology
D006025:Glycosaminoglycans