Abstract
Alterations in glycosphingolipid (GSL) production results in lysosomal storage disorders associated with neurodegenerative changes. In Gaucher’s disease, the patients also develop osteoporosis that is ameliorated upon treatment for the underlying defect in GSL metabolism. The role of GSLs in osteoclast and osteoblast formation is discussed here as well as the potential therapeutic uses of already approved drugs that limit GSL production in bone loss disorders such as multiple myeloma and periodontal disease.
Highlights
Endocrine disorders such as Cushing’s syndrome and hyperthyroidism are well known for their deleterious effects on bone density (Walker-Bone, 2012)
In lysosomal storage disorders (LSDs), such as Gaucher’s disease, patients present with osteoporotic bone loss, in addition to characteristic hematological and neurological defects, that improves with treatment for the underlying defect in glycosphingolipid (GSL) metabolism
We have shown that GM3 is a proosteoclastogenic factor that synergistically enhances the ability of the pro-osteoclastogenic factors RANKL and insulin-like growth factor-1 (IGF-1) to induce the maturation of osteoclasts
Summary
Endocrine disorders such as Cushing’s syndrome and hyperthyroidism are well known for their deleterious effects on bone density (Walker-Bone, 2012). Patients with Gaucher’s disease develop progressive osteoporosis and Frontiers in Endocrinology | Bone Research often osteolytic lesions, believed to reflect increased osteoclastic activity.
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