Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses.
Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses.
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DOI：
10.1002/dvdy.24010
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发表时间：
2013-09
影响因子：
2.5
通讯作者：
Pacifici, Maurizio
中科院分区：
文献类型：
--
作者：
Huegel, Julianne;Sgariglia, Federica;Enomoto-Iwamoto, Motomi;Koyama, Eiki;Dormans, John P.;Pacifici, Maurizio
关键词：
Heparan sulfate (HS) is an essential component of cell surface and matrix-associated proteoglycans (HSPGs). Due to their sulfation patterns, the HS chains interact with numerous signaling proteins and regulate their distribution and activity on target cells. Many of these proteins, including bone morphogenetic protein family members, are expressed in the growth plate of developing skeletal elements, and several skeletal phenotypes are caused by mutations in HS-synthesizing and modifying enzymes. The disease we discuss here is Hereditary Multiple Exostoses (HME), a disorder caused by mutations in HS synthesizing enzymes EXT1 and EXT2, leading to HS deficiency. The exostoses are benign cartilaginous-bony outgrowths, form next to growth plates, can cause growth retardation and deformities, chronic pain and impaired motion, and progress to malignancy in 2-5% of patients. We describe recent advancements on HME pathogenesis and exostosis formation deriving from studies that have determined distribution, activities and roles of signaling proteins in wild type and HS-deficient cells and tissues. Aberrant distribution of signaling factors combined with aberrant responsiveness of target cells to those same factors appear to be a major culprit in exostosis formation. Insights from these studies suggest plausible and cogent ideas about how HME could be treated in the future.
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