ArticleMolecules (Basel, Switzerland)2015
Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection.
Article in Molecules (Basel, Switzerland), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Muscle and cardiac therapeutic strategies for Duchenne muscular dystrophy: past, present, and future.Pharmacological reports : PR · 2020Pooled it
- Orthodontic treatment and musculoskeletal balance: a cross-sectional study of postural and functional outcomes in young adults.BMC oral health · 2025Article
- How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?Proteomes · 2024Article
- Poor bone health in Duchenne muscular dystrophy: a multifactorial problem beyond corticosteroids and loss of ambulation.Frontiers in endocrinology · 2024Review
- LEDT and Idebenone treatment modulate autophagy and improve regenerative capacity in the dystrophic muscle through an AMPK-pathway.PloS one · 2024Article
- Longitudinal Assessment of Creatine Kinase, Creatine/CreatinineNeurology · 2023Article
- Myostatin Overexpression and Smad Pathway in Detrusor Derived from Pediatric Patients with End-Stage Lower Urinary Tract Dysfunction.International journal of molecular sciences · 2023Article
- Identification of Two Novel Variants of thePharmacogenomics and personalized medicine · 2023Article
- Biomarkers in Duchenne Muscular Dystrophy.Current heart failure reports · 2022Review
- Myostatin/Activin Receptor Ligands in Muscle and the Development Status of Attenuating Drugs.Endocrine reviews · 2022Review
- Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.Journal of molecular neuroscience : MN · 2022Review
- The relationship between primary sarcopenia and SARC-F, serum MMP9, TIMP1 levels, and MMP9/TIMP1 ratio in the geriatric patients.European geriatric medicine · 2021Article
- miRNome profiling in Duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers.Bioscience reports · 2021Article
- (-)-Epicatechin induces mitochondrial biogenesis and markers of muscle regeneration in adults with Becker muscular dystrophy.Muscle & nerve · 2021Article
- Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.Frontiers in neurology · 2021Article
- Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction.Frontiers in genetics · 2021Article
- Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring.Molecular therapy. Methods & clinical development · 2020Review
- Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy.Scientific reports · 2019Article
- Role of Myokines in Regulating Skeletal Muscle Mass and Function.Frontiers in physiology · 2019Review
- Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.Medicine · 2017Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-invasive biological indicators of the absence/presence or progress of the disease that could be used to support diagnosis and to evaluate the effectiveness of treatment are of utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing weakness and disability, whereas female relatives are at risk of being carriers of the disease. A biomarker with both high sensitivity and specificity for accurate prediction is preferred. Until now creatine kinase (CK) levels have been used for DMD diagnosis but these fail to assess disease progression. Herein we examined the potential applicability of serum levels of matrix metalloproteinase 9 and matrix metalloproteinase 2, tissue inhibitor of metalloproteinases 1, myostatin (GDF-8) and follistatin (FSTN) as non-invasive biomarkers to distinguish between DMD steroid naïve patients and healthy controls of similar age and also for carrier detection. Our data suggest that serum levels of MMP-9, GDF-8 and FSTN are useful to discriminate DMD from controls (p < 0.05), to correlate with some neuromuscular assessments for DMD, and also to differentiate between Becker muscular dystrophy (BMD) and Limb-girdle muscular dystrophy (LGMD) patients. In DMD individuals under steroid treatment, GDF-8 levels increased as FSTN levels decreased, resembling the proportions of these proteins in healthy controls and also the baseline ratio of patients without steroids. GDF-8 and FSTN serum levels were also useful for carrier detection (p < 0.05). Longitudinal studies with larger cohorts are necessary to confirm that these molecules correlate with disease progression. The biomarkers presented herein could potentially outperform CK levels for carrier detection and also harbor potential for monitoring disease progression.
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