Epigenetics of neuromuscular disorders

Epigenomics. 2020 Dec;12(23):2125-2139. doi: 10.2217/epi-2020-0282. Epub 2020 Nov 6.


Neuromuscular disorders are a heterogeneous group of conditions affecting the neuromuscular system. The aim of this article is to review the major epigenetic findings in motor neuron diseases and major hereditary muscular dystrophies. DNA methylation changes are observed in both hereditary and sporadic forms, and combining DNA methylation analysis with mutational screening holds the potential for better diagnostic and prognostic accuracy. Novel, less toxic and more selective epigenetic drugs are designed and tested in animal and cell culture models of neuromuscular disorders, and non-coding RNAs are being investigated as either disease biomarkers or targets of therapeutic approaches to restore gene expression levels. Overall, neuromuscular disorder epigenetic biomarkers have a strong potential for clinical applications in the near future.

Keywords: DNA methylation; Duchenne and Becker muscular dystrophy; amyotrophic lateral sclerosis; epigenetics; facioscapulohumeral muscular dystrophy; miRNAs; myotonic dystrophy type 1; spinal muscular atrophy.

Publication types

  • Review

MeSH terms

  • Animals
  • Epigenesis, Genetic*
  • Epigenomics
  • Humans
  • Neuromuscular Diseases / genetics*