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对TMEM43结合伙伴的蛋白质性查确定了导致线粒体功能障碍的VDAC

Qingqing Zhu¹, Guoxing Zheng¹, Yingsi Lu¹

¹Scientific Research Center, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, Guangdong, China.

|December 18, 2025

概括

常见的TMEM43 S358L突变与心律失常的右心室心肌病变 (ARVC5) 相关,破坏蛋白质相互作用,特别是与VDACs. 这种干扰导致心脏细胞中的线粒体功能障碍.

科学领域:

分子生物学分子生物学
心血管研究研究心血管研究
细胞生物学细胞生物学

背景情况:

跨膜蛋白43 (TMEM43) S358L突变在5型心律失常性右心室心肌病 (ARVC5) 中普遍存在.
了解TMEM43突变相互作用蛋白对于阐明ARVC5病原性至关重要.

研究的目的:

确定和描述TMEM43及其突变S358L的差异性结合伙伴.
研究改变蛋白相互作用的功能后果,特别是关于线粒体功能.

主要方法:

量化免疫沉 (IP) - 质谱 (MS) 用于选TMEM43结合伙伴.
免疫光 (IF) 染色和TurboID近距离标签被用于验证.
线粒体功能测试是在心脏肌细胞 H9c2 细胞中进行的.

主要成果:

为TMEM43 p.S358L确定了166种不同的蛋白质结合候选物.
丰富性分析显示,它与信号传递,脂质代谢和心血管疾病有关.
观察到与TMEM43突变体结合的电压依赖性离子选择性通道蛋白 (VDAC1和VDAC2) 的显著减少.
减少VDAC结合与表达TMEM43 p.S358L的心脏细胞中的线粒体功能障碍相关.

结论:

这项研究提供了TMEM43 p.S358L.的全面互动组.
这些发现表明TMEM43在线粒体调节中起着关键作用.
由TMEM43突变体改变的VDAC结合有助于ARVC5.5的病变发生.

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