Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy

Sci Rep. 2016 Aug 3:6:30999. doi: 10.1038/srep30999.

Abstract

Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies. In DM1, dominant effects of expanded CUG repeats result in part from the inactivation of the muscleblind-like (MBNL) proteins. To test the role of MBNL3, we deleted Mbnl3 exon 2 (Mbnl3(ΔE2)) in mice and examined the onset of age-associated diseases over 4 to 13 months of age. Accelerated onset of glucose intolerance with elevated insulin levels, cardiac systole deficits, left ventricle hypertrophy, a predictor of a later onset of heart failure and the development of subcapsular and cortical cataracts is observed in Mbnl3(ΔE2) mice. Retention of embryonic splice isoforms in adult organs, a prominent defect in DM1, is not observed in multiple RNAs including the Insulin Receptor (Insr), Cardiac Troponin T (Tnnt2), Lim Domain Binding 3 (Ldb3) RNAs in Mbnl3(ΔE2) mice. Although rare DM1-like splice errors underlying the observed phenotypes cannot be excluded, our data in conjunction with the reported absence of alternative splice errors in embryonic muscles of a similar Mbnl3(ΔE2) mouse by RNA-seq studies, suggest that mechanisms distinct from the adult retention of embryonic splice patterns may make important contributions to the onset of age-associated pathologies in DM1.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Alternative Splicing*
  • Animals
  • Carrier Proteins / physiology*
  • Exons
  • Gene Expression Regulation, Developmental
  • Glucose Intolerance
  • LIM Domain Proteins / genetics*
  • Male
  • Mice
  • Mice, Knockout
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Myotonic Dystrophy / etiology
  • Myotonic Dystrophy / metabolism
  • Myotonic Dystrophy / pathology*
  • Protein Binding
  • RNA-Binding Proteins

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • LIM Domain Proteins
  • Ldb3 protein, mouse
  • MBNL3 protein, mouse
  • RNA-Binding Proteins