Bone Biomarkers in Mucopolysaccharidoses

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.

Towards Polycaprolactone-Based Scaffolds for Alveolar Bone Tissue Engineering: A Biomimetic Approach in a 3D Printing Technique

“…The GAGs align specifically with the CGI, increasing the ordering of the CGI fibrils in the direction of mechanical force transmission [83,84]. On the other hand, too high accumulation of GAGs in cartilage and bone tissues leads to progressive cartilage damage, reducing bone growth [86,87].…”

Advanced 3D Magnetic Scaffolds for Tumor-Related Bone Defects

“…According to some authors, bone remodeling process also includes an activation phase, in which osteoclast precursor cells are activated, and after formation, follows termination phase, also known as quiescence, when osteoblasts become bone lining cells or differentiate in osteocytes [23]. The perfect equilibrium in bone remodeling is tightly connected with the action of various local and systemic factors: hormones, cytokines, chemokines, and biomechanical stimuli [24]. When formation and resorption phases are disconnected, bone disorders appear, and an imperfect balance generates serious bone disease, such as A complete cycle of bone remodeling can be divided in three main phases: first, osteoclasts set up bone resorption; second phase, entitled reversal, represents the transition between resorption and formation; and, finally, the third phase, bone formation.…”

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

“…(3,4) In recent years, cytokines have also been implicated as potential prognostic biomarkers in bone disease-specifically, multiple studies have found aberrant levels of inflammatory cytokines in mucopolysaccharidosis-associated dysplasia. (5,6) The potential use of cytokines as biomarkers and targets of therapy in the management of skeletal dysplasia is intriguing. Owing in large part to their wide anatomic distribution and characteristic pleiotropism, it is often difficult to provide comprehensive description of cytokines' effects throughout the body.…”

“…( 3 , 4 ) In recent years, cytokines have also been implicated as potential prognostic biomarkers in bone disease—specifically, multiple studies have found aberrant levels of inflammatory cytokines in mucopolysaccharidosis‐associated dysplasia. ( 5 , 6 )…”