Ⅸ型胶原基因与骨肌系统疾病相关性的研究现状

Research status of correlation between type Ⅸ collagen gene and musculoskeletal diseases

Ⅸ型胶原作为关节软骨的一个重要组成部分,对骨与软骨稳态起着重要的调控作用。该基因变异或缺失会引起这个稳态失衡从而导致相应骨关节结构发育异常,导致多发性骨骺发育不全。解剖结构的变异随之而来的是相应功能单位的生物学性能改变,结合由基因异常引起的微环境改变,在反复应力的作用下会出现骨关节炎、椎间盘退行性变等一系列骨关节退行性变,此外,Ⅸ型胶原的缺乏还影响关节软骨、椎间盘组织损伤的修复。然而,与Ⅸ型胶原基因相关的骨肌系统疾病不仅限于此,还有许多疾病报道较少,证据相对不足,有待进一步深入研究。明确该基因与这些疾病的关系不仅可以提供有效的诊断方法,更能为后续的治疗开辟新的道路。

As an important component of articular cartilage,typeⅨcollagen plays an important role in regulating homeostasis of bone and cartilage.The mutation or deletion of gene could disequilibrate homeostasis leads to deformity of corresponding bone and joint,and finally causes multiple epiphyseal dysplasia.Moreover,anatomic variation also leads to biomechanics change of corresponding functional unit,combine with micro-environment change caused by change of genes,osteoarthritis and disc degeneration were occurred under the function of stress over and over again.In addition,lack of typeⅨcollagen could effect repair of articular cartilage,intervertebral disc tissue injury.However,musculoskeletal diseases related with typeⅨcollagen has so much not limited this,the reports about it is less for lack of evidence,and need further work to study.Clear relationship of typeⅨcollagen and its disease could provide an effective diagnostic method,and develop a new pathway for follow-up treatment.