Τίτλος:
Serum miRNAs as biomarkers for the rare types of muscular dystrophy
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers’ development for the most rare muscular dystrophies, like the Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2. Here, we aimed to identify novel serum-based miRNA biomarkers for these rare muscular dystrophies, through high-throughput next-generation RNA sequencing. We identified many miRNAs that associate with muscular dystrophy patients compared to controls. Based on a series of selection criteria, the two best candidate miRNAs for each of these disorders were chosen and validated in a larger number of patients. Our results showed that miR-223-3p and miR-206 are promising serum-based biomarkers for Facioscapulohumeral Muscular Dystrophy type 1, miR-143-3p and miR-486-3p for Limb-Girdle Muscular Dystrophy type 2A whereas miR-363-3p and miR-25-3p associate with Myotonic Dystrophy type 2. Some of the identified miRNAs were significantly elevated in the serum of the patients compared to controls, whereas some others were lower. In conclusion, we provide new evidence that certain circulating miRNAs may be used as biomarkers for three types of rare muscular dystrophies. © 2022 The Author(s)
Συγγραφείς:
Koutsoulidou, A.
Koutalianos, D.
Georgiou, K.
Kakouri, A.C.
Oulas, A.
Tomazou, M.
Kyriakides, T.C.
Roos, A.
Papadimas, G.K.
Papadopoulos, C.
Kararizou, E.
Spyrou, G.M.
Zamba Papanicolaou, E.
Lochmüller, H.
Phylactou, L.A.
Περιοδικό:
Neuromuscular Disorders
Εκδότης:
Elsevier Ireland Ltd
Λέξεις-κλειδιά:
microRNA; miR 143 3p; miR 206; miR 223 3p; miR 25 3p; miR 363 3p; miR 486 3p; unclassified drug; biological marker; microRNA; MIRN206 microRNA, human; MIRN363 microRNA, human, Article; controlled study; facioscapulohumeral muscular dystrophy; hierarchical clustering; high throughput screening; human; limb girdle muscular dystrophy; major clinical study; muscular dystrophy; myotonic dystrophy; real time polymerase chain reaction; receiver operating characteristic; sensitivity and specificity; serum; facioscapulohumeral muscular dystrophy; genetics; limb girdle muscular dystrophy; myotonic dystrophy, Biomarkers; Humans; MicroRNAs; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Facioscapulohumeral; Myotonic Dystrophy
DOI:
10.1016/j.nmd.2022.03.003
