Post-transcriptional methylation of mitochondrial-tRNA differentially contributes to mitochondrial pathology

Maharjan, Sunita; Gamper, Howard; Yamaki, Yuka; Christian, Thomas; Henley, Robert Y.; Li, Nan-Sheng; Suzuki, Takeo; Suzuki, Tsutomu; Piccirilli, Joseph A.; Wanunu, Meni; Seifert, Erin; Wallace, Douglas C.; Hou, Ya-Ming

doi:10.1038/s41467-024-53318-x

Nat Commun

2024

DOI: 10.1038/s41467-024-53318-x

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Post-transcriptional methylation of mitochondrial-tRNA differentially contributes to mitochondrial pathology

Sunita Maharjan,

Howard Gamper,

Yuka Yamaki

et al.

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Tissue-specific apparent mtDNA heteroplasmy and its relationship with ageing and mtDNA gene expression

Wengert,

Giannoulis,

Kreitmaier

et al. 2024

Preprint

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Heteroplasmy in the mitochondrial DNA (mtDNA) accumulates with age, but how much it occurs in tissues and how it affects function and physiology is not well-studied. Here we present a comprehensive tissue-specific map of mtDNA heteroplasmy and mtRNA modifications, and their relationships with age and mitochondrial gene expression. We propose a robust variant calling pipeline for mtDNA heteroplasmy and mtRNA modifications using bulk RNAseq data from 49 tissues in GTEx, and a calibrated phenotype association framework for both types of variants. We identify 109 associations between them and donor age, and 784 associations with tissue-specific mtDNA gene expression. Of these, 7 and 18 show cell-type specificity within tissue. In addition, we find 9 instances where these variations mediate donor age effects on mtDNA gene expression. Finally, we confirm previously identified relationships between mt-tRNA modifications and gene expression on their 5’, but read- and gene-level investigations reveal previously unmodeled complexities.

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Tissue-specific apparent mtDNA heteroplasmy and its relationship with ageing and mtDNA gene expression

Wengert,

Giannoulis,

Kreitmaier

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

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Post-transcriptional methylation of mitochondrial-tRNA differentially contributes to mitochondrial pathology

Cited by 1 publication

References 80 publications

Tissue-specific apparent mtDNA heteroplasmy and its relationship with ageing and mtDNA gene expression

Tissue-specific apparent mtDNA heteroplasmy and its relationship with ageing and mtDNA gene expression

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