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在老化的人类大脑皮质和小脑中线粒体DNA变异

Audrey A Omidsalar¹, David R Tyrpak^1,2, J Andrew MacKay²

¹Department of Translational Genomics, Keck School of Medicine, University of Southern California, California, Los Angeles, USA.

|December 23, 2025

概括

线粒体DNA (mtDNA) 副本数量随着年龄的增长而减少,大缺失随着年龄的增长而增加在人类大脑中,特别是在皮质中. 特定的单核酸变体 (SNV) 与这些与年龄相关的mtDNA缺失有关.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
衰老研究研究衰老研究

背景情况:

身体线粒体DNA (mtDNA) 的变化,包括突变和拷贝数的变化,与衰老有关,并且在不同大脑区域之间存在差异.
了解这些mtDNA变化对于理解与年龄有关的神经系统过程和疾病至关重要.

研究的目的:

为了研究衰老,大脑区域 (额叶皮和小脑) 和特定的线粒体DNA (mtDNA) 变化之间的关系.
分析mtDNA拷贝数,大删除,单核酸变异 (SNVs) 和它们在人脑死后样本中的关联.

主要方法:

利用来自北美大脑表达协会 (北美大脑表达协会) 的全基因组测序数据 (292个死亡后控制大脑样本).
采用生物信息工具 (fastMitoCalc,Splice-Break2) 来量化mtDNA拷贝数,大删除,并分析SNVs (同质体和异质体).
评估了删除对线粒体复合体,微蛋白和tRNA的影响,并进行了SNV和删除之间的全基因组关联.

主要成果:

在皮层中,mtDNA副本数量随着年龄的增长显著下降.
大量的mtDNA删除在皮质和小脑中随着年龄的增长而增加,皮质的增加更为急剧.
异质性SNV在皮质但不是小脑随着年龄的增长而增加;三个特定的SNV与大 mtDNA 删除有显著的关联.

结论:

衰老与mtDNA拷贝数量的减少和人类大脑,特别是皮层中大量mtDNA删除的增加有关.
大量的mtDNA删除不成比例地影响线粒体复合体I和特定的微蛋白 (mtALTND4,SHMOOSE).
特定的常见SNV与与年龄相关的大型mtDNA删除有关,这表明可能对老化过程中mtDNA稳定性的遗传影响.

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