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在软骨缺陷中探索内质网膜压力相关基因:对诊断和治疗的影响

Haoqi Cai¹, Cong Li¹, Kai Luo²

¹Department of Orthopedic Surgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, China.

Combinatorial chemistry & high throughput screening

|November 15, 2025

概括

这项研究确定了内质网膜 (ER) 压力生物标志物和软骨缺陷 (CDs) 中的免疫失衡. 一种使用ER压力相关基因的诊断模型,如TNFRSF12A,显示了早期CD检测的前景.

科学领域:

整形外科整形外科整形外科
生物分子机制的生物分子机制.
计算生物学是一种计算生物学.

背景情况:

软骨缺陷 (CDs) 因其有限的再生能力而构成重大临床挑战.
早期和准确检测CDS对于有效的管理和治疗策略至关重要.

研究的目的:

为了识别新的内质网膜 (ER) 与压力相关的生物标志物,用于软骨缺陷 (CDs).
开发一种诊断模型,以提高CD的早期检测.
调查ER压力和免疫失调在CD病变发生过程中的相互作用.

主要方法:

转录组数据分析 (GSE129147) 以确定与ER压力相关的差异表达基因 (ERSRDEGs).
使用基因和基因组的京都百科全书 (KEGG) 和基因本体学 (GO) 的功能丰富分析.
对免疫透的评估和使用后勤回归,支持矢量机器和LASSO回归的诊断模型的构建.

主要成果:

确定了20种ERSRDEG,其中CYBB,ATP6V1A和TNFRSF12A在CD组织中显著上调.
功能性分析表明,氧化应激反应和细胞外矩阵重塑在CD的发病过程中.
一个包含TNFRSF12A,TWIST1和ATP6V1A的初步诊断模型显示出良好的预测准确性 (AUC:0.7-0.9).

结论:

细胞内膜网膜 (ER) 压力和免疫失衡是导致CDs软骨退化的关键因素.
这些已识别的基因,特别是TNFRSF12A,TWIST1和ATP6V1A,代表了CD的潜在生物标志物.
开发的基于ERSRDEG的诊断模型为CD中的向诊断和治疗提供了初步的生物信息学证据.

关键词:

软骨缺陷是一种软骨缺陷.生物信息学分析.软骨再生软骨再生诊断模型诊断模型诊断模型细胞内膜网膜的压力应激免疫透免疫透是什么?

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