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软骨寡聚基质蛋白:COMP 病及其他。

Cartilage oligomeric matrix protein: COMPopathies and beyond.

机构信息

McGovern Medical School, UTHealth, Department of Pediatrics, United States.

McGovern Medical School, UTHealth, Department of Pediatrics, United States.

出版信息

Matrix Biol. 2018 Oct;71-72:161-173. doi: 10.1016/j.matbio.2018.02.023. Epub 2018 Mar 9.

Abstract

Cartilage oligomeric matrix protein (COMP) is a large pentameric glycoprotein that interacts with multiple extracellular matrix proteins in cartilage and other tissues. While, COMP is known to play a role in collagen secretion and fibrillogenesis, chondrocyte proliferation and mechanical strength of tendons, the complete range of COMP functions remains to be defined. COMPopathies describe pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), two skeletal dysplasias caused by autosomal dominant COMP mutations. The majority of the mutations are in the calcium binding domains and compromise protein folding. COMPopathies are ER storage disorders in which the retention of COMP in the chondrocyte ER stimulates overwhelming cellular stress. The retention causes oxidative and inflammation processes leading to chondrocyte death and loss of long bone growth. In contrast, dysregulation of wild-type COMP expression is found in numerous diseases including: fibrosis, cardiomyopathy and breast and prostate cancers. The most exciting clinical application is the use of COMP as a biomarker for idiopathic pulmonary fibrosis and cartilage degeneration associated osteoarthritis and rheumatoid and, as a prognostic marker for joint injury. The ever expanding roles of COMP in single gene disorders and multifactorial diseases will lead to a better understanding of its functions in ECM and tissue homeostasis towards the goal of developing new therapeutic avenues.

摘要

软骨寡聚基质蛋白(COMP)是一种大型五聚体糖蛋白,与软骨和其他组织中的多种细胞外基质蛋白相互作用。虽然 COMP 已知在胶原分泌和原纤维形成、软骨细胞增殖以及肌腱机械强度方面发挥作用,但 COMP 的完整功能仍有待确定。COMP 病描述了假软骨发育不全症(PSACH)和多发性骨骺发育不良症(MED),这两种骨骼发育不良是由常染色体显性 COMP 突变引起的。大多数突变发生在钙结合域,影响蛋白折叠。COMP 病是内质网储存障碍,其中 COMP 在软骨细胞内质网中的保留会刺激细胞应激过度。这种保留导致氧化和炎症过程,导致软骨细胞死亡和长骨生长丧失。相比之下,在许多疾病中都发现了野生型 COMP 表达的失调,包括纤维化、心肌病以及乳腺癌和前列腺癌。最令人兴奋的临床应用是将 COMP 用作特发性肺纤维化和与骨关节炎和类风湿关节炎相关的软骨退化以及关节损伤的预后标志物的生物标志物。COMP 在单基因疾病和多因素疾病中的作用不断扩大,将有助于更好地了解其在 ECM 和组织动态平衡中的功能,以开发新的治疗途径。

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