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与聋相关的线粒体12SrRNA突变重塑线粒体和细胞平衡

Yunfan He¹, Zhining Tang², Gao Zhu³

¹Center for Mitochondrial Biomedicine and Department of Otolaryngology-Head and Neck Surgery, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, Zhejiang, China; Institute of Genetics, Zhejiang University International School of Medicine, Hangzhou, Zhejiang, China; Center for Genetic Medicine, Zhejiang University International Institute of Medicine, Yiwu, Zhejiang, China.

The Journal of biological chemistry

|December 24, 2024

概括

人类线粒体12S核糖体RNA中的m.1555A>G突变破坏了细胞能量生产和线粒体健康,导致聋. 这项研究揭示了这些缺陷是如何触发细胞修复机制的,从而影响恒常性.

科学领域:

线粒体生物学线粒体生物学
遗传学是一个遗传学.
细胞生理学细胞生理学

背景情况:

人类线粒体12S核糖体RNA中的m.1555A>G突变是已知的aminoglycoside诱导和非综合征性聋的原因.
以前的研究将这种突变与线粒体翻译和氧化酸化 (OXPHOS) 损害联系起来.
作为对这种突变的反应,线粒体功能障碍和细胞完整性调节的潜在机制尚不清楚.

研究的目的:

阐明m.1555A>G突变影响线粒体功能和细胞平衡的分子机制.
为了研究细胞信号通路参与维护线粒体和细胞完整性在突变诱导的压力下.

主要方法:

利用了从一个听力受损者获得的m.1555A>G突变和听力正常控制的cybrid细胞系.
分析了OXPHOS复合体的核编码子单元和组装因子的表达.
评估线粒体功能,包括膜潜力,反应性氧物种 (ROS) 生产,氧消耗和ATP合成.

主要成果:

m.1555A>G突变导致了下调的核编码OXPHOS子单元 (I,IV复合体) 和上调的组装因子.
观察到异常组合,不稳定性和OXPHOS复合体 (I,IV,V) 的活性降低,氧气消耗降低,ATP生产减少.
突变细胞显示膜潜力下降,ROS增加,线粒体动力不平衡 (裂变增加),线粒体衰变受损,线粒体衰变路径上调 (帕金,粉红色,BNIP3,NIX).

结论:

m.1555A>G突变破坏了线粒体生物发生和功能,导致细胞应激和线粒体质量控制受损.
细胞在对线粒体缺陷的反应中激活了依赖于全素的和独立的线粒体路.
这项研究提供了关于线粒体聋的病理生理学的见解,强调了由于12S rRNA 1555A>G突变而导致细胞平衡的重塑.

关键词:

12S rRNA 是一个12S rRNA.细胞亡途径的途径细胞完整性完整性听力障碍听力障碍听力障碍细胞内部的信号传输.线粒体DNA突变的突变线粒细胞衰变 (mitophagy) 是一种神经衰变的过程.

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