The Second School of Clinical Medical College of Binzhou Medical College, Yantai Affiliated Hospital of Binzhou Medical University, Yantai, 264100, Shandong Province, China.
Department of Orthopedic Surgery, Key Laboratory of Orthopedics, Sports Medicine & Rehabilitation, Qingdao Municipal Hospital, University of Health and Rehabilitation Sciences, Qingdao, 266071, Shandong Province, China.
Sci Rep. 2024 Oct 1;14(1):22847. doi: 10.1038/s41598-024-73718-9.
Anterior cruciate ligament (ACL) injury is a common orthopedic disease with a high incidence, long recovery time, and often requiring surgical treatment. However, the susceptibility factors for ACL injury are currently unclear, and there is a lack of analysis on the differences in the ligament itself. Previous studies have focused on germline mutations, with less research on somatic mutations. To determine the role of somatic mutations in ACL injuries, we recruited seven patients between the ages of 20 and 39 years diagnosed with ACL injuries, collected their peripheral blood, injured ligament ends, and healthy ligament ends tissues, and performed exome sequencing with gene function enrichment analysis. We detected multiple gene mutations and gene deletions, which were only present in some of the samples. Unfortunately, it was not possible to determine whether these somatic mutations are related to ligament structure or function, or are involved in ACL injury. However, this study provides valuable clues for future in-depth research.
前交叉韧带（ACL）损伤是一种常见的骨科疾病，发病率高，恢复时间长，通常需要手术治疗。然而，ACL 损伤的易感性因素目前尚不清楚，并且对韧带本身的差异缺乏分析。以前的研究集中在种系突变上，体细胞突变的研究较少。为了确定体细胞突变在 ACL 损伤中的作用，我们招募了 7 名年龄在 20 至 39 岁之间被诊断为 ACL 损伤的患者，收集了他们的外周血、损伤的韧带末端和健康的韧带末端组织，并进行了外显子组测序和基因功能富集分析。我们检测到多个基因突变和基因缺失，这些突变和缺失仅存在于部分样本中。不幸的是，无法确定这些体细胞突变是否与韧带结构或功能有关，或者是否与 ACL 损伤有关。然而，这项研究为未来的深入研究提供了有价值的线索。
