Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
Selena Trifunov,Daniel Natera-de Benito,Jesica Maria Exposito Escudero,Carlos Ortez,Julita Medina,Daniel Cuadras,Carmen Badosa,L. Carrera,Andrés Nascimento,Andrés Nascimento,Cecilia Jimenez-Mallebrera,Cecilia Jimenez-Mallebrera +11 more
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TLDR
A trend for microRNA levels to decrease with age is reported, and miR-206 expression levels are capable to distinguish DMD from BMD patients according to ROC analysis, andmiR-30c expression decreased in the muscle of DMD patients and marked upregulation of the target genes for this microRNA.Abstract:
Our objective was to investigate the potential of three microRNAs, miR-181a-5p, miR-30c-5p, and miR-206 as prognostic biomarkers for long-term follow up of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients. We analyzed the expression of three microRNAs in serum of 18 patients (DMD 13, BMD 5) and 13 controls using droplet digital PCR. Over 4 years a minimum of two and a maximum of three measurements were performed at different time points in the same patient. Correlations between microRNA serum levels, age, and functional outcome measures were analyzed. We show the individual evolution of the levels of the three microRNAs in 12 patients and also the effect of corticosteroid treatment on microRNAs expression. We measure the expression of three microRNAs in the muscle of six DMD patients and also the expression of target genes for miR-30c. We found that levels of miR-30c and miR-206 remained significantly elevated in DMD patients relative to controls over the entire study length. The introduction of the corticosteroid treatment did not significantly influence the levels of these microRNAs. We report a trend for microRNA levels to decrease with age. Moreover, miR-206 expression levels are capable to distinguish DMD from BMD patients according to ROC analysis. We found miR-30c expression decreased in the muscle of DMD patients and marked upregulation of the target genes for this microRNA. MiR-30c and miR-206 represent sensitive biomarkers for DMD, while miR-206 may have an additional value to distinguish the DMD and BMD phenotype. This may be particularly relevant to assess the effectiveness of treatments aimed at converting the DMD to the less-severe BMD like phenotype.read more
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Journal ArticleDOI
miRNA Profiling for Early Detection and Treatment of Duchenne Muscular Dystrophy
Heather C. Hrach,Marco Mangone +1 more
TL;DR: The role of circulating miRNAs in DMD is focused on and their potential both as a biomarker in the early detection of disease and as a therapeutic target in the prevention and treatment of DMD symptoms is highlighted.
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Progressive Skeletal Muscle Atrophy in Muscular Dystrophies: A Role for Toll-like Receptor-Signaling in Disease Pathogenesis.
TL;DR: Taming the exaggerated activation of TLR2/4 and TLR7/8/9, and their downstream effectors in particular, comes forward as a therapeutic strategy with potential to slow down disease progression.
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Mirnas, myostatin, and muscle MRI imaging as biomarkers of clinical features in becker muscular dystrophy
TL;DR: It is suggested that microRNAs and myostatin protein levels could be used to better understand the progression and management of the disease.
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Epigenetics of neuromuscular disorders.
TL;DR: Overall, neuromuscular disorder epigenetic biomarkers have a strong potential for clinical applications in the near future.
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Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy
Christopher R. Heier,Aiping Zhang,Nhu Y. Nguyen,Christopher B. Tully,Aswini Panigrahi,Heather Gordish-Dressman,Sachchida Nand Pandey,Michela Guglieri,Monique M. Ryan,Paula R. Clemens,Mathula Thangarajh,Richard Webster,Edward C. Smith,Anne M. Connolly,Craig M. McDonald,Peter I. Karachunski,Mar Tulinius,Amy Harper,Jean K. Mah,Alyson A. Fiorillo,Yi-Wen Chen +20 more
TL;DR: In this paper, the authors identify circulating miRNAs and proteins that are dysregulated in early-onset FSHD patients to develop blood-based molecular biomarkers, including S100A8 and calprotectin.
References
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Journal ArticleDOI
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TL;DR: A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.
Journal ArticleDOI
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
Annemieke Aartsma-Rus,Judith C.T. van Deutekom,Ivo F.A.C. Fokkema,Gert-Jan B. van Ommen,Johan T. den Dunnen +4 more
TL;DR: An update of the mutational variability in the DMD gene is provided, particularly focusing on genotype–phenotype correlations and mutations that appear to be exceptions to the reading‐frame rule.
Journal ArticleDOI
The 6‐minute walk test in Duchenne/Becker muscular dystrophy: Longitudinal observations
Craig M. McDonald,Erik K Henricson,Jay J. Han,R. Ted Abresch,Alina Nicorici,Leone Atkinson,Gary Elfring,A. Reha,Langdon L. Miller +8 more
TL;DR: Changes in 6MWD depended on stride length and age; improvements usually occurred by 7–8 years of age; older DBMD subjects worsened, whereas older healthy subjects were stable.
Journal ArticleDOI
MicroRNA-206 is highly expressed in newly formed muscle fibers: implications regarding potential for muscle regeneration and maturation in muscular dystrophy.
Katsutoshi Yuasa,Yasuko Hagiwara,Masanori Ando,Akinori Nakamura,Shin'ichi Takeda,Takao Hijikata +5 more
TL;DR: Observations indicated that newly formed myotubes showed markedly increased expression of miR-206, which might reflect active regeneration and efficient maturation of skeletal muscle fibers.
Journal ArticleDOI
MiR-206, a key modulator of skeletal muscle development and disease.
TL;DR: Dysregulation of miR-206 has been linked to many disorders in skeletal muscle such as Duchenne muscular dystrophy and amyotrophic lateral sclerosis and it may become novel target for ameliorating skeletal muscle-related disorders and optimization of muscle quantity of domestic animals.
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