• Circulating Micro RNAs as a safe diagnoses tool in DMD
  • Fatemeh Farzi,1 Seyyed Abolghasem Mohammadi,2 Ebrahim Sakhinia,3 Asiyeh Jebelli,4 Effat Alizadeh,5,*
    1. Department of Medical Biotechnology, Faculty of Advanced Medical Sciences, Tabriz University of Medical Sciences, Tabriz, Iran
    2. Department of Medical Biotechnology, Faculty of Advanced Medical Sciences, Tabriz University of Medical Sciences, Tabriz, Iran
    3. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran, Department of Laboratory and Regenerative Medicine, University of Manchester, Manchester, United Kingdom
    4. Department of Biological Science, Faculty of Basic Science, Higher Education Institute of Rab-Rashid, Tabriz, Iran
    5. Department of Biological Science, Faculty of Basic Science, Higher Education Institute of Rab-Rashid, Tabriz, Iran


  • Introduction: DMD is a member of neuromuscular disorders. This group include similar disease which are hard to distinguish between them. In order to choose the best treatment to administer exact diagnose is necessary. Conventional methods are like CK measurement, EMG evaluation, muscle biopsy, PCR, MLPA, southern blotting, immunohistochemical-based diagnose and NGS-based diagnose. Although these methods are beneficial but disadvantages like being invasive, expensive, non-specific and needing high technology are existing when utilizing them. Recent evidence shows that circulating blood microRNAs evaluation as a specific non-invasive monitoring method may help for DMD diagnosis. The aim of this review is to discuss recent studies about circulating microRNAs as potential biomarkers for detection of DMD.
  • Methods: All original articles regarding miRNA, biomarker, and DMD diagnosis were collected, and main findings were summarized in this work.
  • Results: Most of the studies in the DMD detection area had a similar point of view regarding impact of mir-133-a/133-b/206/499/208-a/208-b(1). This miR frequently demonstrated dysregulation in DMD patients or carrier persons. Expression of this circulating miRs have been evaluated in several patients with different type of mutation in various subgroups of MD. They demonstrated that combined measurement of several miRs not only can be used as a diagnostic tool, but also may could distinguish in similar cases like DMD and Beker muscular dystrophy (2). The serum levels of miR-95 and miR-539 assessed and revealed dysregulation in a small cohort study on dogs and human (3). Other microRNAs which were mentioned in previous studies (miR-339-5p/486/1/483/30c/181-a/378) indicate either positive or negative relation with DMD.
  • Conclusion: According to our evaluation, we can confirm that circulating miRNAs, in particular conserved miRNAs could serve as the best biomarkers for DMD diagnosing.
  • Keywords: Circulating miRNAs, DMD, Diagnosis