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多基因洞察力确定了在阻塞性睡眠呼吸暂停中解读蛋白质催化和自途径的精确生物标志物

Xiaoying Ke^1,2,3, Min Huang^1,2,3, Yingying Zheng^1,2,3

¹Department of Otolaryngology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.

Scientific reports

|August 4, 2025

概括

阻塞性睡眠呼吸暂停 (OSA) 涉及呼吸道阻塞和严重的健康成本. 这项研究确定了关键基因,将缺氧和线粒细胞衰竭联系起来,为OSA管理提供了潜在的生物标志物和治疗点.

科学领域:

基因组学就是基因组学.
睡眠医学睡眠医学
分子生物学分子生物学

背景情况:

阻塞性睡眠呼吸暂停 (OSA) 是一种普遍存在的疾病,具有相当大的健康和经济影响.
经常出现的上呼吸道阻塞是OSA的特征,需要对潜在的分子机制进行研究.
确定新的生物标志物和治疗点对于改善OSA患者的治疗结果至关重要.

研究的目的:

在OSA中识别缺氧和线粒细胞衰变相关的差异表达基因 (HMRDEGs).
评估已识别的HMRDEGs对OSA的诊断和治疗潜力.
阐明 hypoxia-mitophagy 交叉声在 OSA 病理生理学中的作用.

主要方法:

来自GEO数据库 (GSE135917,GSE38792) 的转录数据使用limma包进行了分析.
差异表达基因 (DEGs) 与精选的缺氧和髓相关基因组 (HMRGs) 交叉.
使用已识别的枢纽基因 (NLRP3,MAPK9,RBBP4,CLINT1) 构建了一个诊断模型;进行了基因本体学和KEGG通路分析.

主要成果:

确定了24个HMRDEG,其中4个枢纽基因形成了具有高AUC值 (0.982培训,0.812验证) 的诊断模型.
功能性丰富分析将这些基因与蛋白质代谢和自联系起来.
免疫细胞透概况显示了与特定白细胞子集的关联.

结论:

缺氧 - 线粒交叉是涉及OSA病变发生的中心机制.
鉴定到的HMRDEGs,特别是枢纽基因,代表了用于OSA诊断的有前途的生物标志物小组.
这些发现表明,在OSA治疗中,针对缺氧-线粒细胞衰竭途径的新型治疗策略.

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