The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

Journal of Clinical Medicine

Virginia Arechavala-Gomeza¹  Alfonsina Ballester-Lopez²  Alicia Martínez-Piñeiro²  Gisela Nogales-Gadea²  Emma Koehorst² 

[1] Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, 48903 Barakaldo, Bizkaia, Spain;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;

关键词: myotonic dystrophies;    miRNAs;    biomarkers;    therapeutics;   

DOI  :  10.3390/jcm9123939

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown