The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I
Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Arechavala-Gomeza, Virginia (Ikerbasque, Basque Foundation for Science)
Martínez-Piñeiro, Alicia (Universitat Autònoma de Barcelona. Departament de Medicina)
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)

Data:	2020
Resum:	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.
Ajuts:	Ministerio de Economía y Competitividad PI15/01756 Instituto de Salud Carlos III PI18/00114 Instituto de Salud Carlos III PI18/00713 Instituto de Salud Carlos III LCF/BQ/DI18/11660019 European Commission. Horizon 2020 713673 Ministerio de Sanidad y Consumo FI_B 01090 Ministerio de Economía y Competitividad CP12/03057 Ministerio de Economía y Competitividad CP14/00032
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Myotonic dystrophies ; Mirnas ; Biomarkers ; Therapeutics
Publicat a:	Journal of clinical medicine, Vol. 9 (december 2020) , ISSN 2077-0383

DOI: 10.3390/jcm9123939
PMID: 33291833

18 p, 1.2 MB

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