The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I
Por:
Koehorst, E, Ballester-Lopez, A, Arechavala-Gomeza, V, Martinez-Pineiro, A and Nogales-Gadea, G
Publicada:
1 dic 2020
Ahead of Print:
4 dic 2020
Resumen:
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.
Filiaciones:
:
Univ Autonoma Barcelona, Inst Invest Ciencies Salut Germans Trias & Pujol, Neuromuscular & Neuropediat Res Grp, Campus Can Ruti, Badalona 08916, Spain
:
Univ Autonoma Barcelona, Inst Invest Ciencies Salut Germans Trias & Pujol, Neuromuscular & Neuropediat Res Grp, Campus Can Ruti, Badalona 08916, Spain
Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain
Arechavala-Gomeza, V:
Biocruces Bizkaia Hlth Res Inst, Neuromuscular Disorders Grp, Baracaldo 48903, Spain
Ikerbasque, Basque Fdn Sci, Bilbao 48009, Spain
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Univ Autonoma Barcelona, Inst Invest Ciencies Salut Germans Trias & Pujol, Neuromuscular & Neuropediat Res Grp, Campus Can Ruti, Badalona 08916, Spain
Hosp Badalona Germans Trias & Pujol, Neurosci Dept, Neurol Serv, Neuromuscular Pathol Unit, Badalona 08916, Spain
:
Univ Autonoma Barcelona, Inst Invest Ciencies Salut Germans Trias & Pujol, Neuromuscular & Neuropediat Res Grp, Campus Can Ruti, Badalona 08916, Spain
Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain
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