Role of microRNAs as a Regulator of Gene Expression and its Involvement in Myofibrillar Myopathy: Preliminary Results of a Case Series

Introduction: MyomiRNAs (miRs) are a group of microRNAs (miRNAs) recently identified to play a role in skeletal and/or cardiac muscles.The purpose of this study was to explore and evaluate the diagnostic value of these miRs and mRNA expression in the skeletal muscles of patients with genetically proven myofibrillar myopathy (MFM). Material and Methods:Muscles samples from 16 patients with MFM and 18 donors were included, and the mRNA expression and miR-1, miR-133a, miR-133b, miR-206, miR-208a, miR-208b, miR-486 and miR-499 from both groups were assessed by RT-PCR.Statistical analyses were performed using ANOVA and Student t test. Results:The expression of the genes DES, ZASP, and FLNC as well as the miRNAs miR-133b and miR-499 was up regulated in patients with MFM, while miR-208a and miR-486 were up regulated in the control group.Discussion: Four miRs were significantly expressed in the MFM group, suggesting that miRs-133b and miR-499 play a role in the regeneration and degeneration process, while miR-208a and miR-486 probably have a protective function in muscle fibers. Conclusion:Regulation of miRs in MFM may aid in identifying prognostic biomarkers and developing novel treatments.New studies should be carried out in an attempt to elucidate the role of the mRNAS described.