Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy

Epigenomics. 2020 Nov;12(21):1899-1915. doi: 10.2217/epi-2020-0052. Epub 2020 Nov 20.

Abstract

Aim: To perform cross-sectional and longitudinal miRNA profiling in plasma from Duchenne muscular dystrophy (DMD) subjects and find non-invasive biomarkers in DMD. Subjects/materials & methods: Plasma was collected from 14 age and sex matched controls and 46 DMD subjects. Free-circulating and extracellular vesicle (EV)-derived miRNA expression was measured by RT-qPCR. Results: Free-circulating and EVs derived miR-29c-3p and miR-133a-3p are dysregulated in DMD subjects. Free-circulating and EV-derived miR-29c-3p are reduced in DMD subjects undergoing daily corticosteroid treatment. Free-circulating miR-1-3p and miR-122-5p are longitudinally upregulated in ambulant DMD subjects. Conclusion: We detected novel free-circulating and EV-derived dysregulated miRNAs in plasma from DMD subjects and characterized the longitudinal profile of free-circulating miRNA on plasma from DMD subjects.

Trial registration: ClinicalTrials.gov NCT02780492.

Keywords: Duchenne muscular dystrophy; biomarkers; corticosteroids; extracellular vesicles; microRNAs; plasma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use
  • Biomarkers*
  • Circulating MicroRNA*
  • Extracellular Vesicles / metabolism*
  • Gene Expression Regulation
  • Humans
  • Liquid Biopsy
  • Longitudinal Studies
  • MicroRNAs / genetics*
  • Muscular Dystrophy, Duchenne / drug therapy
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / metabolism*

Substances

  • Adrenal Cortex Hormones
  • Biomarkers
  • Circulating MicroRNA
  • MicroRNAs

Associated data

  • ClinicalTrials.gov/NCT02780492