Evidence map›Paper›PMID 39031377›Full record

ArticleJournal of neuromuscular diseases2024

Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study.

Marie-Pier Roussel, Aymeric Ravel-Chapuis, Jonathan Gobin, Bernard J Jasmin, Jean-Philippe Leduc-Gaudet, Cynthia Gagnon, Elise Duchesne

Abstract read
In one paragraph

Article in Journal of neuromuscular diseases, 2024. 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. miR-107 repressesMolecular therapy. Nucleic acids · 2025
    Article
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.

Marie-Pier RousselDépartement des Sciences Fondamentales, Université du Québec à Chicoutimi, Saguenay, QC, Canada.
Aymeric Ravel-ChapuisÉcole des Sciences Pharmaceutiques, Faculté de Médecine, Université d'Ottawa, Ottawa, Canada.
Jonathan GobinDépartement de Médecine Cellulaire et Moléculaire, Faculté de Médecine, Université d'Ottawa, Ottawa, Canada.
Bernard J JasminDépartement de Médecine Cellulaire et Moléculaire, Faculté de Médecine, Université d'Ottawa, Ottawa, Canada.
Jean-Philippe Leduc-GaudetGroupe de Recherche en Signalisation Cellulaire, Département de Biologie Médicale, Université du Québec à Trois-Rivières, Trois-Rivières, QC, Canada.
Cynthia GagnonGroupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-Saint-Jean, Saguenay, QC, Canada.
Elise DuchesneGroupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-Saint-Jean, Saguenay, QC, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Myotonic dystrophy type 1 (DM1) is a slowly progressive disease caused by abnormal CTG repetitions on the dystrophia myotonica protein kinase (DMPK) gene. Long mRNA from CTG repetitions stabilizes in nuclear foci and sequester muscleblind-like splicing regulator 1 (MBNL1). Cardinal signs of DM1 include muscle wasting and weakness. The impacts of DM1 progression on skeletal muscle are under-researched. Objective: Identifying physiopathological markers related to maximal strength loss over time in DM1. Methods: Twenty-two individuals with DM1 participated in two maximal isometric muscle strength (MIMS) evaluations of their knee extensors and two vastus lateralis muscle biopsies, 3 years apart. Muscle fiber typing, size (including minimal Feret's diameter [MFD] and atrophy/hypertrophy factors [AF/HF]), and nuclear foci and MBNL1 colocalization (foci/MBNL1+) were evaluated. Immunoblotting was used to measure glycogen synthase kinase-3 beta (GSK3β), p62, LC3BI, LC3BII, and oxidative phosphorylation proteins. Results: There are significant correlations between the fold changes of MIMS with type 1 fiber MFD (ρ= 0.483) and AF (ρ= -0.514). Regression analysis shows that baseline percentage of foci/MBNL1+ nuclei and strength training explain 44.1% of foci/MBNL1+ nuclei percentage variation over time. There are fair to excellent correlations between the fold changes of MIMS and GSK3β (ρ= 0.327), p62 (ρ= 0.473), LC3BI (ρ= 0.518), LC3BII (ρ= -0.391) and LC3BII/LC3BI (ρ= -0.773). Conclusion: Type 1 MFD decrease and AF increase are correlated with MIMS loss. There seems to be a plateau effect in foci/MBNL1+ nuclei accumulation and strength training helps decrease this accumulation. Autophagy marker LC3BII/LC3BI ratio has a good biomarker potential of MIMS loss, but more investigations are needed.

Indexed as

BiomarkersMuscle StrengthMyotonic DystrophyAdultDisease ProgressionFemaleFollow-Up StudiesHumansMaleMiddle AgedMuscle, SkeletalRNA-Binding ProteinsBiomarkersRNA-Binding Proteinshistomorphologymaximal muscle strengthMyotonic dystrophy type 1natural history studynuclear foci and MBNL1 colocalizationprotein expression

Identifiers

PMID39031377
PMCPMC11380274

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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.