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Record W4407727773 · doi:10.1016/j.csbj.2025.02.016

Influence of CTG repeats from the human DM1 locus on murine gut microbiota

2025· article· en· W4407727773 on OpenAlexafffund
Manijeh Mahdavi, Karine Prévost, Philippe Balthazar, Valérie Gagné‐Ouellet, Isabelle Fissette-Paul Hus, Élise Duchesne, Cynthia Gagnon, Isabelle Laforest‐Lapointe, Nicolas A. Dumont, Éric Massé

Bibliographic record

VenueComputational and Structural Biotechnology Journal · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGut microbiota and health
Canadian institutionsCentre Hospitalier Universitaire de SherbrookeCentre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanUniversité de SherbrookeCentre Hospitalier Universitaire Sainte-JustineCentre for Interdisciplinary Research in RehabilitationUniversité LavalUniversité de Montréal
FundersCanadian Institutes of Health Research
KeywordsLocus (genetics)GeneticsBiologyGut floraComputational biologyGeneImmunology

Abstract

fetched live from OpenAlex

Myotonic Dystrophy type 1 (DM1) is caused by a CTG repeat expansion in the 3' untranslated region of the DMPK gene. This expansion leads to the production of toxic RNA transcripts, which accumulate in the nucleus and interfere with normal RNA processing. DM1 affects a broad range of tissues and systems such as the skeletal muscle, the central nervous system, cardiac, visual, reproductive, and gastrointestinal (GI) system. GI dysfunction is a significant but poorly understood aspect of DM1. Particularly, it is unknown if there are alterations in the intestinal microbiome in DM1. Here, we used a transgenic humanized mouse model (DMSXL) to explore how the gut microbiome may be linked to GI issues in DM1. For this purpose, 68 stool samples from Homozygous, Heterozygous, and Wild-Type (WT) mice were collected. These samples were sequenced by MiSeq and analyzed with DADA2 to generate taxonomic profiles. Our analysis indicated that the overexpression of CTG repeats significantly influences the bacterial structure of the gut microbiome in Homozygous mice samples, especially in terms of the relative abundance of the Patescibacteria and Defferibacterota Phyla. These results provide valuable information about the gut microbiota structure thus improving the understanding of the role of these changes in the pathogenicity as well as GI problems of DM1 patients.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.871
Threshold uncertainty score0.337

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.005
GPT teacher head0.260
Teacher spread0.255 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2025
Admission routes2
Has abstractyes

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