Abstract
The accumulation of glycosaminoglycans (GAGs) in bone and cartilage leads to progressive damage in cartilage that, in turn, reduces bone growth by the destruction of the growth plate, incomplete ossification, and growth imbalance. The mechanisms of pathophysiology related to bone metabolism in mucopolysaccharidoses (MPS) include impaired chondrocyte function and the failure of endochondral ossification, which leads to the release of inflammatory cytokines via the activation of Toll-like receptors by GAGs. Although improvements in the daily living of patients with MPS have been achieved with enzyme replacement, treatment for the bone disorder is limited. There is an increasing need to identify biomarkers related to bone and cartilage to evaluate the progressive status and to monitor the treatment of MPS. Recently, new analysis methods, such as proteomic analysis, have identified new biomarkers in MPS. This review summarizes advances in clinical bone metabolism and bone biomarkers.
Highlights
The mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders characterized by a deficiency of enzymes that degrade glycosaminoglycans (GAGs) [1]
The accumulation of GAGs in bone and cartilage leads to progressive damage in cartilage that, in turn, reduces bone growth by the destruction of the growth plate, incomplete ossification, and growth imbalance [2]
It was hypothesized that GAG accumulation impairs bone cellular function because GAG accumulation was reported in bone cells in some MPS animal models [7,8,9,10] and in a human case report [11,12]
Summary
The mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders characterized by a deficiency of enzymes that degrade glycosaminoglycans (GAGs) [1]. Dysostosis multiplex in the context of MPS is a characteristic finding and was hypothesized to be associated with abnormalities in bone remodeling given its progressive nature [4,5,6]. Results with MPS animal models have suggested that bone remodeling might be impaired. It was hypothesized that GAG accumulation impairs bone cellular function because GAG accumulation was reported in bone cells (osteoblasts, osteoclasts, and chondrocytes) in some MPS animal models [7,8,9,10] and in a human case report [11,12]. Some of the pathophysiology has been reported, precise bone biomarkers to evaluate and monitor the condition of the bone system in MPS have not yet been developed [3,16].
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