Zhou Ao, Wang Ji, Jia An, Zhang Qi, Duoji Zeren, Yu Zhengqiang, Huang Zhiyong
Department of Orthopaedics, University-Town Hospital, Chongqing Medical University, Chongqing, 401331, China.
Department of Trauma and Orthopedics, Chongqing People's Hospital, Chongqing, 401147, China.
BMC Musculoskelet Disord. 2025 Jul 22;26(1):697. doi: 10.1186/s12891-025-08922-3.
Kashin-Beck disease (KBD) is a chronic and debilitating osteoarthropathy predominantly affecting populations in certain endemic regions. Despite extensive research, the underlying mechanisms of KBD remain poorly understood. Here we analyzed gene expression profiles from KBD patients and healthy controls, identifying 16 differentially expressed genes. Key pathways related to oxidative stress, apoptosis, and epigenetic regulation were implicated in KBD's development. Notably, GPX4 upregulation and differential m6A RNA methylation suggest potential therapeutic targets. Additionally, distinct metabolic regulation patterns were observed among KBD patients. These insights not only advance our understanding of KBD's molecular basis but also suggest promising directions for future research and clinical applications.
大骨节病（KBD）是一种慢性致残性骨关节炎，主要影响某些流行地区的人群。尽管进行了广泛研究，但大骨节病的潜在发病机制仍知之甚少。在此，我们分析了大骨节病患者和健康对照的基因表达谱，鉴定出16个差异表达基因。与氧化应激、细胞凋亡和表观遗传调控相关的关键信号通路与大骨节病的发展有关。值得注意的是，GPX4上调和m6A RNA甲基化差异提示了潜在的治疗靶点。此外，在大骨节病患者中观察到了独特的代谢调控模式。这些见解不仅加深了我们对大骨节病分子基础的理解，也为未来的研究和临床应用指明了有前景的方向。
