ArticleHuman molecular genetics2020
Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Integrative multi-omics analysis reveals lipid/metabolite dysregulation and temporal decoupling in disease progression.Scientific reports · 2026Article
- MetaboVariation 2.0: Multivariate analysis for identifying metabolite variation at the individual level.PloS one · 2026Article
- Longitudinal multi-omics evidence reveals lung injury and concurrent disruption of intestinal flora and serum metabolism by cigarette smoke and influenza virus.Frontiers in cellular and infection microbiology · 2026Article
- Improvement of Spontaneous Locomotor Activity in a Murine Model of Duchenne Muscular Dystrophy by N-Acetylglucosamine Alone and in Combination With Prednisolone.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- D- and L-Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy.Journal of cellular and molecular medicine · 2025Article
- Beta-hydroxy-beta-methylbutyrate (HMB) improves daily activity and whole-body protein metabolism in Duchenne muscular dystrophy dogs: a pilot study.Scientific reports · 2025Article
- How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?Proteomes · 2024Article
- Characterization of disease-specific alterations in metabolites and effects of mesenchymal stromal cells on dystrophic muscles.Frontiers in cell and developmental biology · 2024Article
- Gas chromatography-mass spectrometry-based untargeted metabolomics analysis reveals circulating biomarkers related to wooden breast myopathy in broilers: a preliminary study.Poultry science · 2023Article
- Alterations of the Gut Microbiota and Metabolomics Associated with the Different Growth Performances ofAnimals : an open access journal from MDPI · 2023Article
- Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions.Journal of neuromuscular diseases · 2023Review
- Article
- Biomarkers in Duchenne Muscular Dystrophy.Current heart failure reports · 2022Review
- A Review on Differential Abundance Analysis Methods for Mass Spectrometry-Based Metabolomic Data.Metabolites · 2022Review
- Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy.Pflugers Archiv : European journal of physiology · 2021Review
- Pathway testing for longitudinal metabolomics.Statistics in medicine · 2021Article
- Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients.EMBO molecular medicine · 2021Article
- Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.Frontiers in neurology · 2021Article
- Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring.Molecular therapy. Methods & clinical development · 2020Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne muscular dystrophy is a severe pediatric neuromuscular disorder caused by the lack of dystrophin. Identification of biomarkers is needed to support and accelerate drug development. Alterations of metabolites levels in muscle and plasma have been reported in pre-clinical and clinical cross-sectional comparisons. We present here a 7-month longitudinal study comparing plasma metabolomic data in wild-type and mdx mice. A mass spectrometry approach was used to study metabolites in up to five time points per mouse at 6, 12, 18, 24 and 30 weeks of age, providing an unprecedented in depth view of disease trajectories. A total of 106 metabolites were studied. We report a signature of 31 metabolites able to discriminate between healthy and disease at various stages of the disease, covering the acute phase of muscle degeneration and regeneration up to the deteriorating phase. We show how metabolites related to energy production and chachexia (e.g. glutamine) are affected in mdx mice plasma over time. We further show how the signature is connected to molecular targets of nutraceuticals and pharmaceutical compounds currently in development as well as to the nitric oxide synthase pathway (e.g. arginine and citrulline). Finally, we evaluate the signature in a second longitudinal study in three independent mouse models carrying 0, 1 or 2 functional copies of the dystrophin paralog utrophin. In conclusion, we report an in-depth metabolomic signature covering previously identified associations and new associations, which enables drug developers to peripherally assess the effect of drugs on the metabolic status of dystrophic mice.
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