Evidence map›Paper›PMID 41453949›Full record

ReviewCell death & disease2025

Model organisms in POLG-related disorders: insights from yeast to multicellular systems.

Raquel Brañas Casas, Giovanni Risato, Alessandro Zuppardo, Carlo Viscomi, Francesco Argenton, Mara Doimo, Nicola Facchinello, Natascia Tiso

Erratum issuedAbstract readReview
In one paragraph

Review in Cell death & disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. When Surgical Intervention Becomes a Risk: Severe Drug-Induced Gingival Overgrowth and Clinical Decision-Making in Alpers-Huttenlocher Syndrome.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Raquel Brañas CasasDepartment of Biology, University of Padova, Padova, Italy.
Giovanni RisatoDepartment of Biology, University of Padova, Padova, Italy.ORCID http://orcid.org/0000-0003-0651-7409
Alessandro ZuppardoDepartment of Biomedical Sciences, University of Padova, Padova, Italy.ORCID http://orcid.org/0000-0001-9601-3567
Carlo ViscomiDepartment of Biomedical Sciences, University of Padova, Padova, Italy.ORCID http://orcid.org/0000-0001-6050-0566
Francesco ArgentonDepartment of Biology, University of Padova, Padova, Italy.ORCID http://orcid.org/0000-0002-0803-8236
Mara DoimoDepartment of Women's and Children's Health, University of Padova, Padova, Italy. mara.doimo@unipd.it.ORCID http://orcid.org/0000-0002-6771-5233
Nicola FacchinelloDepartment of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. nicola.facchinello@unibo.it.
Natascia TisoDepartment of Biology, University of Padova, Padova, Italy. natascia.tiso@unipd.it.ORCID http://orcid.org/0000-0002-5444-9853

Funding

Fondazione Città della Speranza (City of Hope Foundation) IRP-StG-2024Fondazione Telethon (Telethon Foundation) GGP19287Fondazione Telethon (Telethon Foundation) GSA23M005Ministero dell'Istruzione, dell'Università e della Ricerca (Ministry of Education, University and Research) PNRR M4C2 CN00000041Ministero dell'Istruzione, dell'Università e della Ricerca (Ministry of Education, University and Research) PRIN 2022WZCXRZUniversità degli Studi di Padova (University of Padova) 2024DIBIO1SIDASSEGNI-00095Università degli Studi di Padova (University of Padova) PhD Program in Biomedical Sciences
6 · The paper itself

Abstract

Mitochondrial genetic diseases are complex disorders that impair cellular energy production, leading to diverse clinical manifestations across multiple organ systems. These diseases arise from mutations in either mitochondrial DNA or nuclear DNA. Among nuclear DNA-related cases, mutations in POLG and POLG2, which encode subunits of mitochondrial DNA polymerase γ, are particularly significant, causing conditions such as Alpers-Huttenlocher syndrome and progressive external ophthalmoplegia. Model organisms have been instrumental in elucidating POLG-related disease mechanisms and advancing therapeutic strategies. Saccharomyces cerevisiae (budding yeast) provided insights into fundamental mitochondrial functions, while Caenorhabditis elegans (roundworm) helped explore POLG's roles in multicellular organisms. Drosophila melanogaster (fruit fly) has been pivotal in studying neurological aspects, and Mus musculus (mouse) models contributed to understanding systemic effects in mammals. Recently, Danio rerio (zebrafish) has emerged as a promising vertebrate model for drug screening, due to its optical transparency and genetic tractability. Each model system offers unique advantages, collectively bridging the gap between basic research and clinical applications. This review will examine in vivo models used in POLG disorder research, highlighting their contributions to understanding disease mechanisms and therapeutic advancements.

Indexed as

DNA-Directed DNA PolymeraseDNA Polymerase gammaMitochondrial DiseasesSaccharomyces cerevisiaeAnimalsCaenorhabditis elegansDisease Models, AnimalDNA, MitochondrialDrosophila melanogasterHumansMiceMitochondriaMutationZebrafishDNA-Directed DNA PolymeraseDNA, MitochondrialDNA Polymerase gammaPOLG protein, human

Identifiers

PMID41453949
PMCPMC12847702

What OpenQuestion holds

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Registered trials

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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.