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肌腱与韧带遗传学:它们如何导致疾病和损伤?一篇综述。

Tendon and Ligament Genetics: How Do They Contribute to Disease and Injury? A Narrative Review.

作者信息

Ribbans William J, September Alison V, Collins Malcolm

机构信息

School of Health, The University of Northampton, Northampton NN1 5PH, UK.

The County Clinic, Northampton NN1 5DB, UK.

出版信息

Life (Basel). 2022 Apr 29;12(5):663. doi: 10.3390/life12050663.

Abstract

A significant proportion of patients requiring musculoskeletal management present with tendon and ligament pathology. Our understanding of the intrinsic and extrinsic mechanisms that lead to such disabilities is increasing. However, the complexity underpinning these interactive multifactorial elements is still not fully characterised. Evidence highlighting the genetic components, either reducing or increasing susceptibility to injury, is increasing. This review examines the present understanding of the role genetic variations contribute to tendon and ligament injury risk. It examines the different elements of tendon and ligament structure and considers our knowledge of genetic influence on form, function, ability to withstand load, and undertake repair or regeneration. The role of epigenetic factors in modifying gene expression in these structures is also explored. It considers the challenges to interpreting present knowledge, the requirements, and likely pathways for future research, and whether such information has reached the point of clinical utility.

摘要

需要进行肌肉骨骼管理的患者中,很大一部分存在肌腱和韧带病变。我们对导致此类残疾的内在和外在机制的理解正在不断加深。然而,这些相互作用的多因素元素背后的复杂性仍未得到充分描述。强调遗传成分(无论是降低还是增加受伤易感性)的证据越来越多。本综述探讨了目前对基因变异在肌腱和韧带损伤风险中所起作用的理解。它研究了肌腱和韧带结构的不同要素,并考虑了我们对基因在形态、功能、承受负荷能力以及进行修复或再生方面的影响的了解。还探讨了表观遗传因素在这些结构中修饰基因表达的作用。它考虑了解释现有知识所面临的挑战、未来研究的要求和可能途径,以及此类信息是否已达到临床应用阶段。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fc9/9147569/e9e95ad5f834/life-12-00663-g001.jpg

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