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The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

Neuromuscular and Neuropediatric Research Group, Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain
Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, 48903 Barakaldo, Spain
Ikerbasque, Basque Foundation for Science, 48009 Bilbao, Spain
Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(12), 3939;
Received: 21 October 2020 / Revised: 19 November 2020 / Accepted: 1 December 2020 / Published: 4 December 2020
MicroRNAs (miRNAs) are mostly known for their gene regulation properties, but they also play an important role in intercellular signaling. This means that they can be found in bodily fluids, giving them excellent biomarker potential. Myotonic Dystrophy type I (DM1) is the most frequent autosomal dominant muscle dystrophy in adults, with an estimated prevalence of 1:8000. DM1 symptoms include muscle weakness, myotonia, respiratory failure, cardiac conduction defects, cataracts, and endocrine disturbances. Patients display heterogeneity in both age of onset and disease manifestation. No treatment or cure currently exists for DM1, which shows the necessity for a biomarker that can predict disease progression, providing the opportunity to implement preventative measures before symptoms arise. In the past two decades, extensive research has been conducted in the miRNA expression profiles of DM1 patients and their biomarker potential. Here we review the current state of the field with a tissue-specific focus, given the multi-systemic nature of DM1 and the intracellular signaling role of miRNAs. View Full-Text
Keywords: myotonic dystrophies; miRNAs; biomarkers; therapeutics myotonic dystrophies; miRNAs; biomarkers; therapeutics
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MDPI and ACS Style

Koehorst, E.; Ballester-Lopez, A.; Arechavala-Gomeza, V.; Martínez-Piñeiro, A.; Nogales-Gadea, G. The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I. J. Clin. Med. 2020, 9, 3939.

AMA Style

Koehorst E, Ballester-Lopez A, Arechavala-Gomeza V, Martínez-Piñeiro A, Nogales-Gadea G. The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I. Journal of Clinical Medicine. 2020; 9(12):3939.

Chicago/Turabian Style

Koehorst, Emma, Alfonsina Ballester-Lopez, Virginia Arechavala-Gomeza, Alicia Martínez-Piñeiro, and Gisela Nogales-Gadea. 2020. "The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I" Journal of Clinical Medicine 9, no. 12: 3939.

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