ArticleNature medicine2021
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases.
Article in Nature medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- A meta-analysis and a functional study support the influence of mtDNA variant m.16519C on the risk of rapid progression of knee osteoarthritis.Annals of the rheumatic diseases · 2023Pooled it
- Programmable aging function-related mitochondrial DNA 5-methylcytosine (m5C) modification with a TALE-directed methyltransferase.Cell communication and signaling : CCS · 2026Article
- N-terminal formylmethionine as a degron and a specific signal in proteostasis and stress adaptation.Experimental & molecular medicine · 2026Review
- Nuclear genetic modulation of tissue-specific mitochondrial RNA processing contributes to common disease risk.Nature communications · 2026Article
- Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease.Kidney360 · 2026Article
- N-formyl methionine peptide-driven neutrophil activation in idiopathic inflammatory myopathies.Rheumatology (Oxford, England) · 2026Article
- Metabolic reprogramming induced by CRP deficiency or human CRP transgenic in influenza-infected mice.Frontiers in immunology · 2026Article
- Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.iScience · 2025Article
- Cryptic mitochondrial DNA mutations coincide with mid-late life and are pathophysiologically informative in single cells across tissues and species.Nature communications · 2025Article
- Phylogenetic Relationships of ThreeEcology and evolution · 2025Article
- Gut mycobiome in cardiometabolic disease progression: current evidence and future directions.Frontiers in microbiology · 2025Review
- Causal effects of metabolites on malignant neoplasm of bone and articular cartilage: a mendelian randomization study.Frontiers in genetics · 2025Article
- Mitochondrial genome and transcription ofIMA fungus · 2025Article
- The mitochondrial long non-coding RNA lncMtloop regulates mitochondrial transcription and suppresses Alzheimer's disease.The EMBO journal · 2024Article
- Y and mitochondrial chromosomes in the heterogeneous stock rat population.G3 (Bethesda, Md.) · 2024Article
- Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.Communications biology · 2024Article
- Mitochondrial genetics through the lens of single-cell multi-omics.Nature genetics · 2024Review
- Alterations in metabolome and lipidome in patients with in-stent restenosis.CNS neuroscience & therapeutics · 2024Article
- Molecular Mechanisms of Genotype-Dependent Lifespan Variation Mediated by Caloric Restriction: Insight from Wild Yeast Isolates.bioRxiv : the preprint server for biology · 2024Article
- Intraspecific and interspecific variations in the synonymous codon usage in mitochondrial genomes of 8 pleurotus strains.BMC genomics · 2024Article
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29 authors at 7 institutions in 5 countries.
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Abstract
Mitochondrial DNA (mtDNA) variants influence the risk of late-onset human diseases, but the reasons for this are poorly understood. Undertaking a hypothesis-free analysis of 5,689 blood-derived biomarkers with mtDNA variants in 16,220 healthy donors, here we show that variants defining mtDNA haplogroups Uk and H4 modulate the level of circulating N-formylmethionine (fMet), which initiates mitochondrial protein translation. In human cytoplasmic hybrid (cybrid) lines, fMet modulated both mitochondrial and cytosolic proteins on multiple levels, through transcription, post-translational modification and proteolysis by an N-degron pathway, abolishing known differences between mtDNA haplogroups. In a further 11,966 individuals, fMet levels contributed to all-cause mortality and the disease risk of several common cardiovascular disorders. Together, these findings indicate that fMet plays a key role in common age-related disease through pleiotropic effects on cell proteostasis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.