Serum miRNAs as biomarkers for the rare types of muscular dystrophy

Neuromuscul Disord. 2022 Apr;32(4):332-346. doi: 10.1016/j.nmd.2022.03.003.

PMID: 35393236

Andrie Koutsoulidou, Demetris Koutalianos, Kristia Georgiou, Andrea C Kakouri, Anastasis Oulas, Marios Tomazou, Tassos C Kyriakides, Andreas Roos, George K Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, George M Spyrou, Eleni Zamba Papanicolaou, Hanns Lochmüller, Leonidas A Phylactou

Highlights: It was shown that particular circulating miRNAs can be used as biomarkers for muscular dystrophies like Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2.

Abstract:

Background: 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.

Objective and methods: In this study, the aim was to identify novel serum-based miRNA biomarkers for these rare muscular dystrophies, through high-throughput next-generation RNA sequencing.

Results: Researchers 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. 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.

Conclusion: In conclusion, new evidence for certain circulating miRNAs may be used as biomarkers for three types of rare muscular dystrophies was provided.

Keywords: NMDs, Biomarkers, DM2, FSHD1, LGMD2A, Serum, miRNAs