miRNAs as serum biomarkers for Duchenne muscular dystrophy

Davide Cacchiarelli, Ivano Legnini, Julie Martone, Valentina Cazzella, Adele D'Amico, Enrico Bertini, Irene Bozzoni

Research output: Contribution to journalArticle

137 Citations (Scopus)

Abstract

Dystrophin absence in Duchenne muscular dystrophy (DMD) causes severe muscle degeneration. We describe that, as consequence of fibre damage, specific muscle-miRNAs are released in to the bloodstream of DMD patients and their levels correlate with the severity of the disease. The same miRNAs are abundant also in the blood of mdx mice and recover to wild-type levels in animals 'cured' through exon skipping. Even though creatine kinase (CK) blood levels have been utilized as diagnostic markers of several neuromuscular diseases, including DMD, we demonstrate that they correlate less well with the disease severity. Although the analysis of a larger number of patients should allow to obtain more refined correlations with the different stages of disease progression, we propose that miR-1, miR-133, and miR-206 are new and valuable biomarkers for the diagnosis of DMD and possibly also for monitoring the outcomes of therapeutic interventions in humans. Despite many different DMD therapeutic approaches are now entering clinical trials, a unifying method for assessing the benefit of different treatments is still lacking.

Original languageEnglish
Pages (from-to)258-265
Number of pages8
JournalEMBO Molecular Medicine
Volume3
Issue number5
DOIs
Publication statusPublished - May 2011

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Duchenne Muscular Dystrophy
MicroRNAs
Biomarkers
Serum
Inbred mdx Mouse
Muscles
Neuromuscular Diseases
Dystrophin
Creatine Kinase
Disease Progression
Exons
Therapeutics
Clinical Trials

Keywords

  • Biomarkers
  • Diagnosis
  • Duchenne muscular dystrophy
  • MiRNA
  • Therapy

ASJC Scopus subject areas

  • Molecular Medicine

Cite this

miRNAs as serum biomarkers for Duchenne muscular dystrophy. / Cacchiarelli, Davide; Legnini, Ivano; Martone, Julie; Cazzella, Valentina; D'Amico, Adele; Bertini, Enrico; Bozzoni, Irene.

In: EMBO Molecular Medicine, Vol. 3, No. 5, 05.2011, p. 258-265.

Research output: Contribution to journalArticle

Cacchiarelli, D, Legnini, I, Martone, J, Cazzella, V, D'Amico, A, Bertini, E & Bozzoni, I 2011, 'miRNAs as serum biomarkers for Duchenne muscular dystrophy', EMBO Molecular Medicine, vol. 3, no. 5, pp. 258-265. https://doi.org/10.1002/emmm.201100133
Cacchiarelli, Davide ; Legnini, Ivano ; Martone, Julie ; Cazzella, Valentina ; D'Amico, Adele ; Bertini, Enrico ; Bozzoni, Irene. / miRNAs as serum biomarkers for Duchenne muscular dystrophy. In: EMBO Molecular Medicine. 2011 ; Vol. 3, No. 5. pp. 258-265.
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