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在萨尔科佩尼亚患者的骨肌肉中异常替代拼接的转录学表征

Yuanyuan Li¹, Xiaoxuan Guo², Sujun Li¹

¹Geriatric Endocrinology Department, The First Affiliated Hospital of Zhengzhou University, No.1 Jianshe Road, Jinshui District, 450000, Zhengzhou, China.

Scientific reports

|January 16, 2026

概括

替代拼接变化是萨尔科佩尼亚 (与年龄相关的肌肉损失) 的关键. 许多拼接异常在人类肉症患者和新的小鼠模型之间共享,这表明保留了治疗标.

科学领域:

分子生物学分子生物学
老年学是指老年学的学科.
遗传学是一个遗传学.

背景情况:

萨科佩尼亚是老年人的全球健康风险,涉及与年龄相关的肌肉衰退.
替代拼接可能在沙科佩尼亚的发展中起作用.
调查基因表达变化对于理解肉症至关重要.

研究的目的:

探索替代拼接在萨尔科佩尼亚病变发生中的作用.
为了确定人类和小鼠之间保存的替代拼接事件.

主要方法:

重新分析了来自人类肉症患者和对照组的RNA-seq数据.
开发了一种德克萨米他诱导的肉症小鼠模型.
鼠标肌肉组织的RNA-seq和RT-qPCR分析.

主要成果:

鉴定了2260个不同的替代拼接事件在1686个基因在人类的sarcopenia.
与萨科佩尼亚相关的基因在肌肉发育和信号通路中得到丰富.
在小鼠模型中发现保存的替代拼接事件,与人类发现重叠20%左右.

结论:

替代拼接异常在肉症中很普遍.
在人类和小鼠肉症之间存在一组核心的保存拼接变化.
这些保存的变化代表了潜在的跨物种治疗点.

关键词:

另一个替代拼接.丰富的路径丰富的路径在RNA-seqqq.萨尔科佩尼亚是什么意思萨尔科佩尼亚一个 Sarcopenic 鼠标模型.

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