Evidence map›Paper›PMID 37239447›Full record

ArticleGenes2023

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Ferdinando Barretta, Fabiana Uomo, Filomena Caldora, Rossella Mocerino, Daniela Adamo, Francesco Testa, Francesca Simonelli, Olga Scudiero, Nadia Tinto, Giulia Frisso and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. 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
0.2field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  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

11 authors at 3 institutions in 1 country.

Ferdinando BarrettaDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Fabiana UomoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Filomena CaldoraDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Rossella MocerinoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Daniela AdamoDepartment of Neuroscience, Reproductive Sciences and Dentistry, University of Naples Federico II, 80131 Naples, Italy.
Francesco TestaEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy.
Francesca SimonelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy.
Olga ScudieroDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0002-4916-4976
Nadia TintoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0003-1070-4231
Giulia FrissoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0003-3487-7743
Cristina MazzaccaraDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0001-7774-2799
Ceinge Biotecnologie Avanzate (Italy) · ITUniversity of Naples Federico II · ITUniversity of Campania "Luigi Vanvitelli" · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNext-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the simultaneous identification of genetic variants both in whole mtDNA and in nuclear genes included in a clinic exome panel. Furthermore, the MITO-NUCLEAR assay, implemented in our diagnostic process, has allowed us to arrive at a molecular diagnosis in a young patient.

methodsMassive sequencing strategy was applied for the validation experiments, performed using multiple tissues (blood, buccal swab, fresh tissue, tissue from slide, and formalin-fixed paraffin-embedded tissue section) and two different blend-in ratios of the mitochondrial probes: nuclear probes; 1:900 and 1:300.

resultsData suggested that 1:300 was the optimal probe dilution, where 100% of the mtDNA was covered at least 3000×, the median coverage was >5000×, and 93.84% of nuclear regions were covered at least 100×.

conclusionsOur custom Agilent SureSelect MITO-NUCLEAR panel provides a potential "one-step" investigation that may be applied to both research and genetic diagnosis of MDs, allowing the simultaneous discovery of nuclear and mitochondrial mutations.

Indexed as

Mitochondrial DiseasesDNA, MitochondrialHigh-Throughput Nucleotide SequencingHumansMitochondriaMutationDNA, Mitochondrialcombined sequencing of mitochondrial and nuclear DNAmitochondrial and nuclear disease panelmitochondrial diseasesMITO-NUCLEARmtDNAnext-generation sequencing (NGS)nuclear genes

Identifiers

PMID37239447
PMCPMC10217848
OpenAlexW4376645502

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.