Evidence map›Paper›PMID 39126144›Full record

ArticleMuscle & nerve2024

Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.

Marcelo R S Briones, João H Campos, Renata C Ferreira, Lisa Schneper, Ilda M Santos, Fernando M Antoneli, NYGC ALS Consortium, James R Broach

Abstract read
In one paragraph

Article in Muscle & nerve, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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 of the Pathology of Muscle in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026
    Review
  2. Prevalence and impact of comorbidities in amyotrophic lateral sclerosis.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    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

8 authors.

Marcelo R S BrionesCenter for Medical Bioinformatics, Escola Paulista de Medicina, Federal University of São Paulo, São Paulo, São Paulo, Brazil.ORCID https://orcid.org/0000-0001-8045-2477
João H CamposGraduate Program in Microbiology and Immunology, Federal University of São Paulo, São Paulo, São Paulo, Brazil.ORCID https://orcid.org/0000-0002-8590-8442
Renata C FerreiraDepartment of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, São Paulo, Brazil.ORCID https://orcid.org/0000-0003-1481-2926
Lisa SchneperDepartment of Biochemistry, Institute for Personalized Medicine, Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA.ORCID https://orcid.org/0000-0002-1365-1000
Ilda M SantosGraduate Program in Microbiology and Immunology, Federal University of São Paulo, São Paulo, São Paulo, Brazil.ORCID https://orcid.org/0000-0002-2817-8084
Fernando M AntoneliCenter for Medical Bioinformatics, Escola Paulista de Medicina, Federal University of São Paulo, São Paulo, São Paulo, Brazil.ORCID https://orcid.org/0000-0001-9179-4632
NYGC ALS Consortium
James R BroachDepartment of Biochemistry, Institute for Personalized Medicine, Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA.ORCID https://orcid.org/0000-0003-1197-0312

Funding

Penn State Biomedical Big Data to Knowledge (B2D2K) Training ProgramT32LM012415 · NLM · PENNSYLVANIA STATE UNIVERSITY, THE · PI BROACH, JAMES R., HONAVAR, VASANT G. · 2016 to 2020
$1.2M
ALS Association 19-SI-459CAPESCNPq 303912/2017-0FAPESP 2013/07838-0FAPESP 2014/25602-6NIHNLM NIH HHS T32 LM012415Tow Foundation
6 · The paper itself

Abstract

INTRODUCTION/

aimsAmyotrophic lateral sclerosis (ALS) may be familial or sporadic, and twin studies have revealed that even sporadic forms have a significant genetic component. Variants in 55 nuclear genes have been associated with ALS and although mitochondrial dysfunction is observed in ALS, variants in mitochondrial genomes (mitogenomes) have not yet been tested for association with ALS. The aim of this study was to determine whether mitogenome variants are associated with ALS.

methodsWe conducted a genome-wide association study (GWAS) in mitogenomes of 1965 ALS patients and 2547 controls.

resultsWe identified 51 mitogenome variants with p values <10 DISCUSSION: Our study shows that mitogenome single nucleotide variants (SNVs) are associated with ALS and suggests that these SNVs could be included in routine genetic testing for ALS and that mitochondrial replacement therapy has the potential to serve as a basis for ALS treatment.

Indexed as

Amyotrophic Lateral SclerosisGenome, MitochondrialGenome-Wide Association StudyAgedFemaleGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansMaleMiddle AgedPolymorphism, Single Nucleotideamyotrophic lateral sclerosisGWASmitochondrial genomemitochondrial haplogroupsSNVs

Identifiers

PMID39126144
PMCPMC11474277

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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.