Evidence map›Paper›PMID 8077181›Full record

ReviewJournal of bioenergetics and biomembranes1994

Molecular basis of mitochondrial DNA disease.

M D Brown, D C Wallace

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of bioenergetics and biomembranes, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
5.5field-weighted citation impact, top 3% 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

28 citing papers in PubMed, 147 citations in OpenAlex.

  1. Article
  2. Optical redox imaging of ANT1-deficient muscles.Journal of innovative optical health sciences · 2024
    Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
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  10. [Hereditary optic atrophies].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2009
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Mitochondrial diabetes mellitus.Journal of endocrinological investigation · 2002
    Review
  17. Article
  18. Analysis of microsatellite mutations in the mitochondrial DNA of Saccharomyces cerevisiae.Proceedings of the National Academy of Sciences of the United States of America · 2000
    Article
  19. Article
  20. Article
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.

M D BrownDepartment of Genetics and Molecular Medicine, Atlanta, Georgia 30333.
D C Wallace
Laboratory of Molecular Genetics · PL

Funding

MITOCHONDRIAL INBORN ERRORS OF METABOLISMR01NS021328 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 1985 to 2017
$6.5M
MITOCHONDRIAL GENES AND AMERINDIAN ORIGINSR01GM046915 · NIGMS · EMORY UNIVERSITY · PI WALLACE, DOUGLAS C · 1992 to 1995
–
MITOCHONDRIAL GENES AND CARDIOVASCULAR DISEASESR01HL045572 · NHLBI · EMORY UNIVERSITY · PI WALLACE, DOUGLAS C · 1991 to 1998
–
NHLBI NIH HHS HL45572NIGMS NIH HHS GM46915NINDS NIH HHS NS21328
6 · The paper itself

Abstract

Mitochondrial ATP production via oxidative phosphorylation (OXPHOS) is essential for normal function and maintenance of human organ systems. Since OXPHOS biogenesis depends on both nuclear- and mitochondrial-encoded gene products, mutations in both genomes can result in impaired electron transport and ATP synthesis, thus causing tissue dysfunction and, ultimately, human disease. Over 30 mitochondrial DNA (mtDNA) point mutations and over 100 mtDNA rearrangements have now been identified as etiological factors in human disease. Because of the unique characteristics of mtDNA genetics, genotype/phenotype associations are often complex and disease expression can be influenced by a number of factors, including the presence of nuclear modifying or susceptibility alleles. Accordingly, these mutations result in an extraordinarily broad spectrum of clinical phenotypes ranging from systemic, lethal pediatric disease to late-onset, tissue-specific neurodegenerative disorders. In spite of its complexity, an understanding of the molecular basis of mitochondrial DNA disease will be essential as the first step toward rationale and permanent curative therapy.

Indexed as

DNA, MitochondrialGenotypeHumansMetabolic DiseasesMitochondriaMitochondrial MyopathiesMutationOptic Atrophies, HereditaryOxidative PhosphorylationPhenotypeDNA, Mitochondrial

Identifiers

PMID8077181
OpenAlexW1967683528

What OpenQuestion holds

Textmetadata
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.