Zhou Yichi, Wang Ke, Ren Min, Wang Jiebin, Wang Fanglin, Zhuang Bingbing, Chen Lin, Zhang Zhiqiang, Wang Changsheng
Department of Spine Surgery, The First Affiliated Hospital of Fujian Medical University, 20 Cha Zhong Road, Taijiang District, Fuzhou, Fujian Province, 350000, China.
Spine Center, Wuhan Fourth Hospital, 473 Hanzheng Road, Qiaokou District, Wuhan, Hubei Province, 430000, China.
Biosci Rep. 2025 Apr 2;45(4):BSR20241414. doi: 10.1042/BSR20241414.
Intervertebral disc degeneration (IVDD) is a prevalent musculoskeletal disorder characterized by the deterioration of nucleus pulposus (NP) cells, leading to significant impairments in patients' quality of life. Elucidating the molecular mechanisms underlying IVDD is essential for developing effective therapeutic strategies. In this study, we utilized weighted gene co-expression network analysis to identify key module eigengenes (MEs) from the GSE124272 dataset, combined with differential gene expression analysis to pinpoint differentially expressed genes (DEGs). Functional enrichment analysis revealed that MEs were primarily associated with lipid metabolism and immune response, while DEGs were enriched in immune response and cell proliferation pathways. By integrating MEs, DEGs, and ferroptosis-related genes, we identified six hub genes (acyl-CoA synthetase long-chain family member 1 [ACSL1], BACH1, CBS, CP, AKR1C1, and AKR1C3). Consensus clustering analysis classified samples into two immune-related subgroups, C1 and C2, with single-sample gene set enrichment analysis demonstrating distinct immune scores between the subgroups. Notably, ACSL1 showed the strongest correlation with immune cell infiltration and was significantly up-regulated in the C1 subgroup, which exhibited higher immune scores. In vitro experiments confirmed elevated ACSL1 expression in an IL-1β-induced degenerative NP cell model. Silencing ACSL1 improved cell viability, reduced apoptosis, and restored mitochondrial membrane potential, alongside significant changes in intracellular Fe2+, malondialdehyde, and glutathione levels. In vivo experiments further validated increased ACSL1 expression in intervertebral disc tissues of IVDD rats. Collectively, these findings highlight ACSL1 as a potential biomarker for the early diagnosis of IVDD and a promising therapeutic target.
椎间盘退变(IVDD)是一种常见的肌肉骨骼疾病,其特征是髓核(NP)细胞退变,导致患者生活质量显著受损。阐明IVDD潜在的分子机制对于制定有效的治疗策略至关重要。在本研究中,我们利用加权基因共表达网络分析从GSE124272数据集中识别关键模块特征基因(MEs),并结合差异基因表达分析来确定差异表达基因(DEGs)。功能富集分析表明,MEs主要与脂质代谢和免疫反应相关,而DEGs则富集于免疫反应和细胞增殖途径。通过整合MEs、DEGs和铁死亡相关基因,我们确定了六个枢纽基因(酰基辅酶A合成酶长链家族成员1 [ACSL1]、BACH1、CBS、CP、AKR1C1和AKR1C3)。共识聚类分析将样本分为两个免疫相关亚组,C1和C2,单样本基因集富集分析表明亚组间存在不同的免疫评分。值得注意的是,ACSL1与免疫细胞浸润的相关性最强,且在免疫评分较高的C1亚组中显著上调。体外实验证实,在IL-1β诱导的退变NP细胞模型中ACSL1表达升高。沉默ACSL1可提高细胞活力,减少细胞凋亡,恢复线粒体膜电位,同时细胞内Fe2+、丙二醛和谷胱甘肽水平也发生显著变化。体内实验进一步验证了IVDD大鼠椎间盘组织中ACSL1表达增加。总的来说,这些发现突出了ACSL1作为IVDD早期诊断的潜在生物标志物和有前景的治疗靶点。