Evidence map›Paper›PMID 23063123›Full record

ArticleCell2012

Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition.

Mark S Sharpley, Christine Marciniak, Kristin Eckel-Mahan, Meagan McManus, Marco Crimi, Katrina Waymire, Chun Shi Lin, Satoru Masubuchi, Nicole Friend, Maya Koike and 4 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 209 papers.

0numbers the graph read from it
0cells of the map it votes in
209citing papers in PubMed
10.2field-weighted citation impact, top 1% 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

209 citing papers in PubMed, 397 citations in OpenAlex.

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  13. Cellular and molecular associations with intrinsic brain organization.bioRxiv : the preprint server for biology · 2025
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149 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 2 institutions in 1 country.

Mark S Sharpley *Center for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.
Christine Marciniak *Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, Irvine, CA 92697, USA.
Kristin Eckel-MahanDepartment of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
Meagan McManusCenter for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.
Marco CrimiCenter for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, Irvine, CA 92697, USA.
Katrina WaymireCenter for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, Irvine, CA 92697, USA.
Chun Shi LinCenter for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.
Satoru MasubuchiCenter for Epigenetics and Metabolism, University of California, Irvine, Irvine, CA 92697, USA.
Nicole FriendCenter for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.
Maya KoikeCenter for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.
Dimitra ChalkiaCenter for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.
Grant MacGregorCenter for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, Irvine, CA 92697, USA.
Paolo Sassone-CorsiDepartment of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
Douglas C WallaceCenter for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.
Children's Hospital of Philadelphia · USUniversity of California, Irvine · US

Funding

MITOCHONDRIAL INBORN ERRORS OF METABOLISMR01NS021328 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 1985 to 2017
$6.5M
Adaptive Physiology of mtDNA Longevity MutationsR01AG024373 · NIA · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 2004 to 2008
$1.9M
Mitochondrial Diabetes & Manganic Porphyrin TreatmentR01DK073691 · NIDDK · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 2006 to 2010
$1.5M
A Mitochondrial Etiology of AutismR01NS070298 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 2009 to 2010
$1.3M
A Novel Gene Required for Sertoli-Spermatids AdhesionU01HD045913 · NICHD · UNIVERSITY OF CALIFORNIA-IRVINE · PI MACGREGOR, GRANT R · 2004 to 2008
$1.3M
FUNCTION OF BCL-W IN MURINE DEVELOPMENTR01HD036437 · NICHD · UNIVERSITY OF CALIFORNIA IRVINE · PI MACGREGOR, GRANT R · 1998 to 2001
$466k
NIA NIH HHS AG24373NIA NIH HHS R01 AG024373NICHD NIH HHS HD36437NICHD NIH HHS HD45913NICHD NIH HHS R01 HD036437NICHD NIH HHS U01 HD045913NIDDK NIH HHS DK73691NIDDK NIH HHS R01 DK073691NINDS NIH HHS NS070298NINDS NIH HHS NS21328NINDS NIH HHS R01 NS021328NINDS NIH HHS R01 NS070298
6 · The paper itself

Abstract

Maternal inheritance of mtDNA is the rule in most animals, but the reasons for this pattern remain unclear. To investigate the consequence of overriding uniparental inheritance, we generated mice containing an admixture (heteroplasmy) of NZB and 129S6 mtDNAs in the presence of a congenic C57BL/6J nuclear background. Analysis of the segregation of the two mtDNAs across subsequent maternal generations revealed that proportion of NZB mtDNA was preferentially reduced. Ultimately, this segregation process produced NZB-129 heteroplasmic mice and their NZB or 129 mtDNA homoplasmic counterparts. Phenotypic comparison of these three mtDNA lines demonstrated that the NZB-129 heteroplasmic mice, but neither homoplasmic counterpart, had reduced activity, food intake, respiratory exchange ratio; accentuated stress response; and cognitive impairment. Therefore, admixture of two normal but different mouse mtDNAs can be genetically unstable and can produce adverse physiological effects, factors that may explain the advantage of uniparental inheritance of mtDNA.

Indexed as

AnimalsBehavior, AnimalCognitionDNA, MitochondrialFemaleInheritance PatternsMaleMiceMice, 129 StrainMice, Inbred C57BLMice, Inbred NZBSpecies SpecificityDNA, Mitochondrial

Identifiers

PMID23063123
PMCPMC4175720
OpenAlexW2020127384

What OpenQuestion holds

Textmetadata
LicenceTDM
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.