Ding Lingli, Zhang Yage, Gao Zhao, Qin Shengnan, Wu Siluo, Liu Yamei, Lin Weiping, Wang Haibin, Li Gang, Hou Yonghui, Xu Liangliang
Key Laboratory of Orthopaedics & Traumatology, Lingnan Medical Research Center, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou University of Chinese Medicine, Guangzhou, PR China; Department of Rheumatology, Chongqing Traditional Chinese Medicine Hospital, Chongqing, PR China.
Key Laboratory of Orthopaedics & Traumatology, Lingnan Medical Research Center, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou University of Chinese Medicine, Guangzhou, PR China.
Osteoarthritis Cartilage. 2025 Jul 10. doi: 10.1016/j.joca.2025.07.005.
With age-related incidence and prevalence, osteoarthritis (OA) is becoming a major source of disability with an increased medical burden worldwide. Lysine Demethylase 5 C (KDM5C) mutation causes abnormalities of epilepsy and short stature. Our previous study has demonstrated KDM5C is indispensable for osteogenesis and bone formation. However, the role of KDM5C in cartilage development and OA remains unknown.
We used KDM5C chondrocyte-specific knockout mice model to investigate its role in cartilage development and OA. Western blotting, quantitative RT-PCR, immunofluorescence staining, RNA-seq, and immune-precipitation assay were applied to detect the levels of genes or proteins. Destabilization of the medial meniscus (DMM) model was used to investigate the effect of KDM5C overexpression on OA progression.
In this study, we found decreased expression of KDM5C in chondrocytes of murine and human OA samples. Meanwhile, KDM5C was indispensable for chondrogenic differentiation. The RNAseq analysis showed KDM5C knockout impaired mitochondrial function with inhibition of the oxidative phosphorylation, tricarboxylic acid cycle, and hypoxia-inducible factor-1α (HIF-1α) signaling pathway. We further demonstrated that KDM5C interacted with and increased HIF-1α in chondrocytes. The deletion of KDM5C significantly decreased HIF-1α, leading to increased ROS production and impaired mitochondrial function, which finally disturbed cartilage homeostasis and promoted OA progression. Most importantly, intra-articular injection of lentiviral vector expressing KDM5C could inhibit OA progression in mice.
KDM5C plays a critical role in cartilage development and OA progression. It maintains mitochondrial function and articular cartilage homeostasis by increasing HIF-1α.
随着与年龄相关的发病率和患病率上升,骨关节炎(OA)正成为全球范围内导致残疾增加和医疗负担加重的主要原因。赖氨酸去甲基化酶5C(KDM5C)突变会导致癫痫和身材矮小异常。我们之前的研究表明,KDM5C对骨生成和骨形成不可或缺。然而,KDM5C在软骨发育和OA中的作用尚不清楚。
我们使用KDM5C软骨细胞特异性敲除小鼠模型来研究其在软骨发育和OA中的作用。应用蛋白质免疫印迹法、定量逆转录聚合酶链反应、免疫荧光染色、RNA测序和免疫沉淀分析来检测基因或蛋白质水平。采用内侧半月板失稳(DMM)模型来研究KDM5C过表达对OA进展的影响。
在本研究中,我们发现小鼠和人类OA样本的软骨细胞中KDM5C表达降低。同时,KDM5C对软骨形成分化不可或缺。RNA测序分析表明,KDM5C敲除会损害线粒体功能,抑制氧化磷酸化、三羧酸循环和缺氧诱导因子-1α(HIF-1α)信号通路。我们进一步证明,KDM5C在软骨细胞中与HIF-1α相互作用并增加其水平。KDM5C的缺失显著降低HIF-1α,导致活性氧生成增加和线粒体功能受损,最终扰乱软骨稳态并促进OA进展。最重要 的是,关节内注射表达KDM5C的慢病毒载体可抑制小鼠OA进展。
KDM5C在软骨发育和OA进展中起关键作用。它通过增加HIF-1α来维持线粒体功能和关节软骨稳态。