Circulating MicroRNAs in Duchenne Muscular Dystrophy

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