Biomarker Potential of Extracellular miRNAs in Duchenne Muscular Dystrophy

Anna M L Coenen-Stass; Matthew J A Wood; Thomas C Roberts

doi:10.1016/j.molmed.2017.09.002

Biomarker Potential of Extracellular miRNAs in Duchenne Muscular Dystrophy

Trends Mol Med. 2017 Nov;23(11):989-1001. doi: 10.1016/j.molmed.2017.09.002. Epub 2017 Oct 5.

Authors

Anna M L Coenen-Stass¹, Matthew J A Wood², Thomas C Roberts³

Affiliations

¹ Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK; Institute of Neurology, Sobell Department of Motor Neuroscience and Movement Disorders, University College London, London, Queen Square, London, WC1N 3BG, UK.
² Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK. Electronic address: matthew.wood@dpag.ox.ac.uk.
³ Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK; Sanford Burnham Prebys Medical Discovery Institute, Development, Aging and Regeneration Program, La Jolla, CA 92037, USA. Electronic address: thomas.roberts@dpag.ox.ac.uk.

PMID: 28988850
DOI: 10.1016/j.molmed.2017.09.002

Abstract

miRNAs are small, noncoding RNAs that not only regulate gene expression within cells, but might also constitute promising extracellular biomarkers for a variety of pathologies, including the progressive muscle-wasting disorder Duchenne Muscular Dystrophy (DMD). A set of muscle-enriched miRNAs, the myomiRs (miR-1, miR-133, and miR-206) are highly elevated in the serum of patients with DMD and in dystrophin-deficient animal models. Furthermore, circulating myomiRs might be used as pharmacodynamic biomarkers, given that their levels can be restored towards wild-type levels following exon skipping therapy in dystrophic mice. The relationship between muscle pathology and extracellular myomiR release is complex, and incompletely understood. Here, we discuss current progress leading towards the clinical utility of extracellular miRNAs as putative DMD biomarkers, and their possible contribution to muscle physiology.

Keywords: Duchenne muscular dystrophy; biomarkers; exosomes; extracellular RNA; extracellular vesicles; miRNA.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Animals
Biomarkers / metabolism*
Dystrophin / metabolism
Humans
MicroRNAs / metabolism*
Muscle, Skeletal / metabolism
Muscular Dystrophy, Duchenne / metabolism*

Substances

Biomarkers
Dystrophin
MicroRNAs

Grants and funding

Medical Research Council/United Kingdom