Evidence map›Paper›PMID 27065468›Full record

ReviewCurrent opinion in genetics & development2016

Human mitochondrial DNA replication machinery and disease.

Matthew J Young, William C Copeland

Open access · greenAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers.

0numbers the graph read from it
0cells of the map it votes in
101citing papers in PubMed
12.2field-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

101 citing papers in PubMed, 179 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Review
  6. Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  7. Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. TheGenes · 2025
    Article
  15. Article
  16. Article
  17. Review
  18. Review
  19. Article
  20. Article

41 more citing papers are in PubMed but not listed here.

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

2 authors at 1 institution in 1 country.

Matthew J YoungGenome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, United States.
William C CopelandGenome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, United States. Electronic address: copelan1@niehs.nih.gov.
National Institute of Environmental Health Sciences · US

Funding

Molecular Characterization Of The Mitochondrial Dna PolymeraseZIAES065078 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI COPELAND, WILLIAM · 2009 to 2025
$25.4M
Human Mitochondrial Dna Polymerase With Anti-hiv NucleotidesZIAES065080 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI COPELAND, WILLIAM · 2009 to 2025
$9.6M
Molecular Study Of The Mitochondrial DNA PolymeraseZ01ES065078 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI COPELAND, WILLIAM · 1994 to 2008
$2.8M
Mitochondrial DNA Polymerase With Anti-HIV NucleotidesZ01ES065080 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI COPELAND, WILLIAM · 1995 to 2008
$763k
The Roles of Polymerase Gamma Accessory Subunit Gene Mutations in Human Disease.R00ES022638 · NIEHS · SOUTHERN ILLINOIS UNIVERSITY CARBONDALE · PI YOUNG, MATTHEW J · 2016 to 2018
$747k
Intramural NIH HHS Z01 ES065078Intramural NIH HHS Z01 ES065080NIEHS NIH HHS R00 ES022638
6 · The paper itself

Abstract

The human mitochondrial genome is replicated by DNA polymerase γ in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or depletion of mtDNA. The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS) such as Alpers or early infantile hepatocerebral syndromes, and mtDNA deletion disorders such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. Here we review the current literature regarding human mtDNA replication and heritable disorders caused by genetic changes of the POLG, POLG2, Twinkle, RNASEH1, DNA2, and MGME1 genes.

Indexed as

Genome, MitochondrialCell RespirationDNA-Directed DNA PolymeraseDNA HelicasesDNA, MitochondrialDNA Polymerase gammaDNA ReplicationExodeoxyribonucleasesHumansMitochondrial DiseasesMitochondrial ProteinsMutationRibonuclease HDNA2 protein, humanDNA-Directed DNA PolymeraseDNA HelicasesDNA, MitochondrialDNA Polymerase gammaExodeoxyribonucleasesMGME1 protein, humanMitochondrial ProteinsPOLG2 protein, humanPOLG protein, humanRibonuclease Hribonuclease HITWNK protein, human

Identifiers

PMID27065468
PMCPMC5055853
OpenAlexW2333704821

What OpenQuestion holds

Textmetadata
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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.