Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients | Gambardella et al. Journal of Translational Medicine 2010 8 48 http content 8 1 48 RESEARCH JOURNAL OF TRANSLATIONAL MEDICINE Open Access Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients Stefano Gambardella 1 2 Fabrizio Rinaldi1 Saverio M Lepore3 Antonella Viola1 Emanuele Loro4 Corrado Angelini4 Lodovica Vergani4 Giuseppe Novelli1 5 2 and Annalisa Botta1 Abstract Background MicroRNAs are highly conserved noncoding RNAs involved in post-transcriptional gene silencing. They have been shown to participate in a wide range of biological processes including myogenesis and muscle regeneration. The goal of this study is to test the hypothesis that myo-miRs myo muscle miR miRNA expression is altered in muscle from patients affected by myotonic dystrophy type 1 DM1 the most frequently inherited neuromuscular disease in adults. In order to gain better insights about the role of miRNAs in the DM1 pathogenesis we have also analyzed the muscular expression of miR-103 and miR-107 which have been identified in silica as attractive candidates for binding to the DMPK mRNA. Methods To this aim we have profiled the expression of miR-133 miR-133a miR-133b miR-1 miR-181 miR-181a miR-181 b miR-181c and miR-206 that are specifically induced during myogenesis in cardiac and skeletal muscle tissues. miR-103 and miR-107 highly expressed in brain heart and muscle have also been included in this study. QRT-PCR experiments have been performed on RNA from vastus lateralis biopsies of DM1 patients n 7 and control subjects n 4 . Results of miRNAs expression have been confirmed by Northern blot whereas in situ hybridization technique have been performed to localize misexpressed miRNAs on muscle sections from DM1 and control individuals. Results Only miR-206 showed an over-expression in 5 of 7 DM1 patients threshold 2 fold change between and average compared to the control group. This result has been further
