ArticleAging cell2014
The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific.
Article in Aging cell, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 50 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Association of m.5178C>A variant with serum lipid levels: a systematic review and meta-analysis.Bioscience reports · 2021Pooled it
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- Intensive post-war migrations and mtDNA variation based on Poland case.Scientific reports · 2025Article
- Contributions of inherited mtDNA to longevity: evidence from extended pedigrees with 176 million kinship pairs.EBioMedicine · 2025Article
- Heterogeneity of the Southeast Belarusian mitochondrial gene pool.Journal of human genetics · 2025Article
- Factors involved in human healthy aging: insights from longevity individuals.Frontiers of medicine · 2025Review
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- The Key Role of Mitochondrial Function in Health and Disease.Antioxidants (Basel, Switzerland) · 2023Review
- Digging into the admixture strata of current-day Canary Islanders based on mitogenomes.iScience · 2023Article
- OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.Communications biology · 2023Article
- Modulation of Mitochondrial Function as a Therapeutic Strategy for Neurodegenerative Diseases.The journal of prevention of Alzheimer's disease · 2023Review
- mtDNA variability determines spontaneous joint aging damage in a conplastic mouse model.Aging · 2022Article
- Mitochondrial complex I as a therapeutic target for Alzheimer's disease.Acta pharmaceutica Sinica. B · 2022Review
- A comparison of genotyping arrays.European journal of human genetics : EJHG · 2021Article
- A genome-wide association study in human lymphoblastoid cells supports safety of mitochondrial complex I inhibitor.Mitochondrion · 2021Article
- Partial inhibition of mitochondrial complex I ameliorates Alzheimer's disease pathology and cognition in APP/PS1 female mice.Communications biology · 2021Article
- Single-Cell Approaches for Studying the Role of Mitochondrial DNA in Neurodegenerative Disease.Methods in molecular biology (Clifton, N.J.) · 2021Article
Corrections and comments
- Erratum issuedErratum.2015
Authors and funding
38 authors at 20 institutions in 12 countries.
Funding
Abstract
To re-examine the correlation between mtDNA variability and longevity, we examined mtDNAs from samples obtained from over 2200 ultranonagenarians (and an equal number of controls) collected within the framework of the GEHA EU project. The samples were categorized by high-resolution classification, while about 1300 mtDNA molecules (650 ultranonagenarians and an equal number of controls) were completely sequenced. Sequences, unlike standard haplogroup analysis, made possible to evaluate for the first time the cumulative effects of specific, concomitant mtDNA mutations, including those that per se have a low, or very low, impact. In particular, the analysis of the mutations occurring in different OXPHOS complex showed a complex scenario with a different mutation burden in 90+ subjects with respect to controls. These findings suggested that mutations in subunits of the OXPHOS complex I had a beneficial effect on longevity, while the simultaneous presence of mutations in complex I and III (which also occurs in J subhaplogroups involved in LHON) and in complex I and V seemed to be detrimental, likely explaining previous contradictory results. On the whole, our study, which goes beyond haplogroup analysis, suggests that mitochondrial DNA variation does affect human longevity, but its effect is heavily influenced by the interaction between mutations concomitantly occurring on different mtDNA genes.
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Registered trials
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.