Evidence map›Paper›PMID 42082878›Full record

ReviewJournal of assisted reproduction and genetics2026

Current state of the art in the transmission of mitochondrial DNA pathogenic variants: reviewing preventive-therapeutic alternatives.

Marta Reguera-Cabezas, Felipe Martínez-Pastor, Cristina Soriano-Úbeda

Abstract readReview
In one paragraph

Review in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

3 authors.

Marta Reguera-CabezasAssisted Reproduction Unit, Marqués de Valdecilla University Hospital, Santander, Spain.
Felipe Martínez-PastorDepartment of Molecular Biology (Cell Biology), University of León, León, Spain. felipe.martinez@unileon.es.
Cristina Soriano-ÚbedaInstitute of Animal Health and Livestock Developemnt (INDEGSAL), University of León, León, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This review analyzes strategies to prevent or reduce the transmission of diseases caused by pathogenic variants in mitochondrial DNA (mtDNA). Among these, we will focus on prenatal screening, preimplantation genetic testing, gene-editing techniques, other molecular tools, and selected heterologous mitochondrial replacement techniques (MRTs), explaining their status and the uncertainties surrounding their clinical application. After this analysis and review, we recognise the limitations of the efficacy of prenatal and preimplantation genetic testing for mitochondrial DNA pathogenic variants, the legal constraints on gene editing, and the status of mitochondrial replacement techniques. MRTs are a safe and possibly more effective alternative for preventing diseases caused by mitochondrial DNA pathogenic variants.

Indexed as

DNA, MitochondrialMitochondriaMitochondrial DiseasesMitochondrial Replacement TherapyFemaleGene EditingGenetic TestingHumansPregnancyPreimplantation DiagnosisPrenatal DiagnosisReproductive Techniques, AssistedDNA, MitochondrialAssisted reproductionGeneticsHeteroplasmyMitochondrial diseasesMitochondrial replacement

Identifiers

PMID42082878
PMCPMC13518680

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.