Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1

Riccardo Perbellini, Simona Greco, Gianluca Sarra-Ferraris, Rosanna Cardani, Maurizio C. Capogrossi, Giovanni Meola, Fabio Martelli

Research output: Contribution to journalArticlepeer-review

Abstract

Myotonic Dystrophy Type-1 (DM1) is caused by the expansion of a CTG repeat with a peculiar pattern of multisystemic involvement affecting skeletal muscles, the heart, the eye, the central nervous system and the endocrine system. Since microRNA expression is disrupted in several myopathies, the expression of 24 candidate microRNAs was analyzed in skeletal muscle biopsies of 15 DM1 patients. Controls were constituted by biopsies without overt pathological features derived from 14 subjects with suspected neuromuscular disorder of undetermined nature. We found that miR-1 and miR-335 were up-regulated, whereas miR-29b and c, and miR-33 were down-regulated in DM1 biopsies compared to controls. We also found that the cellular distribution of muscle specific miR-1, miR-133b and miR-206 was severely altered in DM1 skeletal muscles. MicroRNA dysregulation was likely functionally relevant, since it impacted on the expression of the predicted miR-1, and miR-29 targets. The observed miRNA dysregulations and myslocalizations may contribute to DM1 pathogenetic mechanisms.

Original languageEnglish
Pages (from-to)81-88
Number of pages8
JournalNeuromuscular Disorders
Volume21
Issue number2
DOIs
Publication statusPublished - Feb 2011

Keywords

  • Gene expression
  • MicroRNAs
  • Myotonic dystrophy
  • Subcellular localization

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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