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. Epub 2022 Mar 11.


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.

Keywords: Biomarkers; DM2; FSHD1; LGMD2A; Serum; miRNAs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Humans
  • MicroRNAs* / blood
  • MicroRNAs* / genetics
  • Muscular Dystrophies, Limb-Girdle* / blood
  • Muscular Dystrophies, Limb-Girdle* / diagnosis
  • Muscular Dystrophies, Limb-Girdle* / genetics
  • Muscular Dystrophy, Facioscapulohumeral* / blood
  • Muscular Dystrophy, Facioscapulohumeral* / diagnosis
  • Muscular Dystrophy, Facioscapulohumeral* / genetics
  • Myotonic Dystrophy* / blood
  • Myotonic Dystrophy* / diagnosis
  • Myotonic Dystrophy* / genetics


  • Biomarkers
  • MIRN206 microRNA, human
  • MIRN363 microRNA, human
  • MicroRNAs