Evidence map›Paper›PMID 40004527›Full record

ArticleGenes2025

The

Imra Mantey, Felix Langerscheidt, Çağla Çakmak Durmaz, Naomi Baba, Katharina Burghardt, Mert Karakaya, Hans Zempel

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Review
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

7 authors.

Imra ManteyInstitute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
Felix LangerscheidtInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.
Çağla Çakmak DurmazInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.
Naomi BabaInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.
Katharina BurghardtInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.
Mert KarakayaInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.
Hans ZempelInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.ORCID 0000-0002-7510-3077

Funding

Jürgen Manchot Foundation NAscholarship for doctoral candidates from the Faculty of Medicine at Otto von Guericke University Magdeburg NA
6 · The paper itself

Abstract

backgroundThe nuclear-encoded enzyme polymerase gamma (Pol-γ) is crucial in the replication of the mitochondrial genome (mtDNA), which in turn is vital for mitochondria and hence numerous metabolic processes and energy production in eukaryotic cells. Variants in the AIMS/

methodsWe analyzed skin-derived fibroblasts in comparison to a first-degree relative (the mother of the patient), an asymptomatic carrier harboring only the established c.2419C>T; p.(Arg807Cys) mutation. Assessments of mitochondrial function included measurements of mtDNA content, mRNA levels of mitochondrial genes, mitochondrial mass, and mitochondrial morphology. CASE PRESENTATION AND

resultsA 13-year-old male presented with symptoms starting at three years of age, including muscle weakness and atrophy in the lower extremities and facial muscles, which later extended to the upper limbs, voice, and back muscles, without further progression. The patient also reported fatigue and muscle pain after physical activity, with no sensory deficits. Extensive diagnostic tests such as electromyography, nerve conduction studies, muscle biopsy, and MRI were unremarkable. Exome sequencing revealed that he carried the compound heterozygous variants in

conclusionsOur findings suggest that the c.678G>C; p.(Gln226His) variant, in conjunction with the c.2419C>T; p.(Arg807Cys) mutation, may compromise mtDNA replication and mitochondrial function and could result in clinically significant mitochondriopathy. As this study is based on one patient compared to a first-degree relative (but with an identical mitochondrial genome), the pathogenicity of c.678G>C; p.(Gln226His) of

Indexed as

DNA Polymerase gammaMitochondriaMitochondrial DiseasesAdolescentDNA, MitochondrialFemaleFibroblastsHumansMaleMutationPedigreeDNA, MitochondrialDNA Polymerase gammaPOLG protein, humanAlpers-Huttenlocher syndromemitochondriopathymtDNA copy numbermtDNA depletionpolymerase-gammarare diseasespinal muscular atrophy

Identifiers

PMID40004527
PMCPMC11855138

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.