Evidence map›Paper›PMID 29950599›Full record

ArticleNature communications2018

Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations.

Joerg P Burgstaller, Thomas Kolbe, Vitezslav Havlicek, Stephanie Hembach, Joanna Poulton, Jaroslav Piálek, Ralf Steinborn, Thomas Rülicke, Gottfried Brem, Nick S Jones and 1 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
3.1field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 68 citations in OpenAlex.

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  10. The role of mtDNA in oocyte quality and embryo development.Molecular reproduction and development · 2023
    Review
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  15. High-frequency and functional mitochondrial DNA mutations at the single-cell level.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 6 institutions in 3 countries.

Joerg P BurgstallerDepartment for Agrobiotechnology, Biotechnology in Animal Production, IFA Tulln, 3430, Tulln, Austria. joerg.burgstaller@vetmeduni.ac.at.
Thomas KolbeBiomodels Austria, University of Veterinary Medicine Vienna, Veterinaerplatz 1, 1210, Vienna, Austria.
Vitezslav HavlicekDepartment for Biomedical Sciences, Reproduction Centre Wieselburg, University of Veterinary Medicine, Vienna, Austria.
Stephanie HembachDepartment for Agrobiotechnology, Biotechnology in Animal Production, IFA Tulln, 3430, Tulln, Austria.
Joanna PoultonNuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.
Jaroslav PiálekResearch Facility Studenec, Institute of Vertebrate Biology of the Czech Academy of Sciences, Květná 8, 603 65, Brno, Czech Republic.
Ralf SteinbornGenomics Core Facility, VetCore, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210, Vienna, Austria.
Thomas RülickeInstitute of Laboratory Animal Science, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210, Vienna, Austria.
Gottfried BremDepartment for Agrobiotechnology, Biotechnology in Animal Production, IFA Tulln, 3430, Tulln, Austria.
Nick S JonesDepartment of Mathematics, Imperial College London, London, SW7 2AZ, UK. nick.jones@imperial.ac.uk.
Iain G JohnstonSchool of Biosciences, University of Birmingham, Birmingham, B15 2TT, UK. i.johnston.1@bham.ac.uk.ORCID http://orcid.org/0000-0001-8559-3519
University of Veterinary Medicine Vienna · ATCzech Academy of Sciences, Institute of Vertebrate Biology · CZImperial College London · GBLandwirtschaftliche Fachschule Tulln · ATUniversity of Birmingham · GBUniversity of Oxford · GB

Funding

Medical Research Council MR/J010448/1Medical Research Council MR/J013617/1
6 · The paper itself

Abstract

Vital mitochondrial DNA (mtDNA) populations exist in cells and may consist of heteroplasmic mixtures of mtDNA types. The evolution of these heteroplasmic populations through development, ageing, and generations is central to genetic diseases, but is poorly understood in mammals. Here we dissect these population dynamics using a dataset of unprecedented size and temporal span, comprising 1947 single-cell oocyte and 899 somatic measurements of heteroplasmy change throughout lifetimes and generations in two genetically distinct mouse models. We provide a novel and detailed quantitative characterisation of the linear increase in heteroplasmy variance throughout mammalian life courses in oocytes and pups. We find that differences in mean heteroplasmy are induced between generations, and the heteroplasmy of germline and somatic precursors diverge early in development, with a haplotype-specific direction of segregation. We develop stochastic theory predicting the implications of these dynamics for ageing and disease manifestation and discuss its application to human mtDNA dynamics.

Indexed as

Age FactorsAnimalsDatasets as TopicDNA Copy Number VariationsDNA, MitochondrialFemaleGenome, MitochondrialHaplotypesMiceMice, Inbred C57BLMitochondriaModels, AnimalOocytesDNA, Mitochondrial

Identifiers

PMID29950599
PMCPMC6021422
OpenAlexW2809037853

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.