Objective: The diagnosis of Duchenne Muscular Dystrophy (DMD) currently depends on non-specific measures such as Creatine kinase (CK) levels. MicroRNAs (miRNAs) are a class of small, endogenous RNAs of 21-25 nucleotides, that are important regulators for numerous physiological and pathological processes. The aim of the current study is to assess the potential of miRNAs as non-invasive biomarker for the diagnosis of DMD and for identifying carriers.
Patients and methods: Thirty healthy subjects and 29 families with one member diagnosed with DMD were enrolled in the study. Peripheral blood samples were collected from all subjects where microRNAs were extracted from plasma followed by the quantification of miR-499, miR-103a-3p, miR-103a-5p, miR-206, miR-208a, miR-223 and miR-191-5p. MLPA and NGS were carried out as a gold standard technique to identify the mutations in the participants.
Results: Our data revealed that miR-499 was significantly upregulated in all DMD patients, and true carriers (mothers), while 78 % of potential carriers (sisters) exhibited high levels of this miRNA. Similarly, miR-103a-3p showed an increase in the patients' families although to a lesser extent. On the other hand, miR-206 and miR-191-5p were significantly downregulated in the majority of the DMD patients and the tested female family members. MicroRNA miR-103a-5p and miR-208a followed a comparable trend in patients and mothers.
Conclusions: Ourresults suggest that the plasma levels of miRNAs have the capability to diagnose DMD patients and more importantly, miRNAs can be used to identify female carriers.
Keywords: Biomarkers; DMD; DMD carriers; DMD patients; Duchenne muscular dystrophy; MicroRNAs.
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