Longo Umile Giuseppe, Berton Alessandra, Papapietro Nicola, Maffulli Nicola, Denaro Vincenzo
Med Sport Sci. 2012;57:1-9. doi: 10.1159/000328868. Epub 2011 Oct 4.
Rotator cuff disease is among the most common musculoskeletal disorders with high direct and indirect costs in industrialized countries. Not all rotator cuff tears are symptomatic. Genetics has recently been investigated as a factor involved in the pathogenesis of rotator cuff pathology. Genetic factors seem to be involved in symptom presentation and tear progression. As rotator cuff disease is multifactorial, no single gene is directly involved in the pathology. Phenotypic expression of genetic susceptibility manifests at the level of ultrastructure of the tendon. Predisposing genes may also operate through apoptosis and regenerative capacity. Studies on cellular and molecular biology are more numerous, but still incomplete, and recently have focussed on the role of apoptosis in tendinopathy, analyzing its key mediators and cellular changes. Oxidative stress is responsible for reduction of collagen synthesis. Biological investigations have identified recently new risk factors. Preliminary reports introduced the possible role of glucose as a risk factor for rotator cuff tear. Further studies are required to fully clarify the genetic and biological factors involved in rotator cuff tears.
肩袖疾病是工业化国家中最常见的肌肉骨骼疾病之一,直接和间接成本都很高。并非所有肩袖撕裂都有症状。最近,遗传学已被作为一个与肩袖病变发病机制相关的因素进行研究。遗传因素似乎与症状表现和撕裂进展有关。由于肩袖疾病是多因素的,没有单一基因直接参与该病理过程。遗传易感性的表型表达在肌腱超微结构水平上显现。易感基因也可能通过细胞凋亡和再生能力起作用。关于细胞和分子生物学的研究较多,但仍不完整,最近聚焦于细胞凋亡在肌腱病中的作用,分析其关键介质和细胞变化。氧化应激导致胶原蛋白合成减少。生物学研究最近发现了新的风险因素。初步报告提出葡萄糖可能是肩袖撕裂的一个风险因素。需要进一步研究以充分阐明与肩袖撕裂相关的遗传和生物学因素。