Magra Merzesh, Maffulli Nicola
Department of Trauma and Orthopaedic Surgery, Keele University School of Medicine, UK.
J Sci Med Sport. 2008 Jun;11(3):243-7. doi: 10.1016/j.jsams.2007.04.007. Epub 2007 Sep 17.
Tendinopathy is characterised by a disorganised, haphazard healing response with no histological signs of inflammation. Research on tendon injuries is limited to the description of the condition and its management, and the pathogenesis is still ill defined. Together with known intrinsic and extrinsic factors, genetics may play a significant role in the aetiopathogenesis of tendinopathy. ABO and other closely linked genes, COL5A1, and tenascin-C have all been implicated in the aetiopathogenesis of tendinopathy. However, the precise role of these genes in causing or protecting individuals from developing tendinopathy is yet to be defined. An interaction between the various intrinsic and extrinsic factors with the genetic make-up of an individual may increase the likelihood of one individual developing tendinopathy over another. Tendinopathy may well be polygenic, involving complex interactions between multiple genes, and could possibly run in families. Further investigations should determine the exact role played by genetic influences in maintaining tendon homeostasis and pave the way for gene transfer therapy to be developed for the management of tendinopathies.
肌腱病的特征是愈合反应紊乱、杂乱无章，且无炎症的组织学迹象。对肌腱损伤的研究仅限于对该病症及其治疗的描述，其发病机制仍不明确。除了已知的内在和外在因素外，遗传学可能在肌腱病的病因发病机制中起重要作用。ABO基因及其他紧密连锁的基因、COL5A1基因和肌腱蛋白-C均与肌腱病的病因发病机制有关。然而，这些基因在导致个体患肌腱病或保护个体不患肌腱病方面的确切作用尚待确定。各种内在和外在因素与个体基因组成之间的相互作用可能会增加一个个体比另一个个体患肌腱病的可能性。肌腱病很可能是多基因的，涉及多个基因之间的复杂相互作用，并且可能在家族中具有遗传性。进一步的研究应确定遗传影响在维持肌腱内环境稳定中的确切作用，并为开发用于治疗肌腱病的基因转移疗法铺平道路。
