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Record W4417290089 · doi:10.1016/j.ajpath.2025.11.002

Targeting Skeletal Muscle in Duchenne Muscular Dystrophy

2025· article· en· W4417290089 on OpenAlexaff
Christopher Dostal, Julius Reiner, Ana Isabel Antunes Goncalves, Lídia de Sousa, M. van der Knapp, Joel Fischlein, Jessica Marksteiner, Jakob Sauer, Gavin Y. Oudit, Anja Wagner, Dietmar Abraham, Karlheinz Hilber, Klaus Kratochwill, Bruno K. Podesser, Attila Kiss

Bibliographic record

VenueAmerican Journal Of Pathology · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMuscle Physiology and Disorders
Canadian institutionsUniversity of Alberta
FundersLudwig Boltzmann GesellschaftAustrian Science Fund
KeywordsDuchenne muscular dystrophySkeletal muscleDystrophinFibrosisImmune systemTranscriptomeExtracellular matrixGene expression profiling

Abstract

fetched live from OpenAlex

Duchenne Muscular Dystrophy (DMD) is a severe X-linked disorder with progressive myofiber degeneration and fibrosis from dystrophin deficiency. Current therapies are largely supportive with limited anti-fibrotic benefit, prompting new strategies. Sodium-Glucose Co-Transporter-2 inhibitors (SGLT2i) show emerging anti-fibrotic and anti-inflammatory effects. We integrated open-access proteomic and transcriptomic datasets for in-silico analyses, including differential gene expression (DE), Weighted Gene Co-Expression Network Analysis (WGCNA), and pathway enrichment to identify dysregulated pathways potentially reversible by SGLT2i. Immune cell composition was estimated using CIBERSORTx in human and murine datasets. Therapeutic effects were tested with empagliflozin (EMPA) in mdx mice (30 mg/kg/day for 4 weeks starting at 12 weeks) and DMD mdx rats (10 mg/kg/day for 4 months starting at 5 months), with vehicle controls. Validation used RT-qPCR, grip-strength testing, and histological fibrosis staining. Analyses highlighted dysregulated extracellular matrix organization, cytokine signaling, and immune responses. Forty overlapping genes were identified; hub genes included COL3A1, COL5A2, and TGF-β1. EMPA reduced Tgfb1 expression in DMD rats and significantly decreased collagen deposition in skeletal muscle. Functional testing showed longer grip duration in EMPA-treated mice. Immune profiling revealed shifts in T cells and macrophages, indicating immunomodulation. Findings were consistent across species and data modalities analyzed. These results demonstrate that EMPA modulates fibrosis, inflammation, and muscle endurance in DMD models. These data support repurposing SGLT2i as a promising therapeutic strategy for DMD.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.003

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.003
GPT teacher head0.239
Teacher spread0.236 · 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 source (direct Gemma or distilled Codex), 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

Citations4
Published2025
Admission routes1
Has abstractyes

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