| Background Duchenne muscular dystrophy(DMD) is the most common type of muscular dystrophy, belonging to X-linked recessive inheritance. The anti-muscle atrophy protein(dystrophin) gene mutation which located on the Xp21 fragment caused the deletion of skeletal muscular membrane dystrophin. Currently, DMD diagnosis relies on the clinical manifestations, serum creatine kinase(CK), gene, muscular pathology and immunohistochemistry. However, the specificity of serum CK is bad,and its values is easily affected by many factors, such as exercise, stress, infectionand injury. Muscular pathology and immunohistochemistry is an invasive examination, while the higher cost of genetic testing is required. Therefore, it is greatly significant to explore the novel and non-invasive biomarkers for DMD diagnosis. Micro RNAs(mi RNAs/mi Rs) are a class of small non-coding single-stranded RNA containing about 19 to 25 nucleotides in the human genome, and approximately 30% of gene are regulated by mi RNAs, which are highly conserved, timing and tissue specificity. Studies have shown that mi R-206,-1,-133a/b belongs to the classic muscle-specific ones of many mi RNAs families, forming the muscle evolutionary conserved transcriptional regulatory network, and have played an important role in the normal growth and development of muscles, the energy metabolism, pathological processes damage and muscle necrosis. In recent years, a variety of peripheral blood mi RNAs have been considered as potential biological markers of disease, such as cancer, liver damage, and cardiovascular disease, but relatively few studies suggest mi RNAs in the whole blood can be the biomarkers for diagnosis of DMD.Objective The present study was designed to investigate the possibility that the whole blood muscle-specific mi RNAs( mi R-206,-1,-133a/b) can be as a kind of new, non-invasive diagnostic biomarkers for DMD, providing a basis for diagnosis for DMD.Method In this study, 24 DMD children who were 6-17 years old(mean age 8.88 ± 2.72 years) in the Fifth Affiliated Hospital of Zhengzhou University during January in 2014 and May in 2015 were Collected as the DMD group. Meanwhile, 24 healthy children(mean age 8.71 ± 2.63 years)who were 6-17-year-old boy and their economic conditions were similar to the experimental group were chose as the control group. Two groups of age, height, weight were not statistically significant(P>0.05). We detected the expression of the whole blood muscle-specific mi RNAs in the DMD group and the control one by real-time quantitative reverse transcription–polymerase chain reaction(RT-q PCR), next, we applied Pearson correlation analysis to analyze the relationship between muscle-specific mi RNAs and age, the power of muscle and the muscular function, drawing the ROC curve to determine the reliability for DMD.Result 1. The expression of whole blood muscle-specific mi RNAs in the DMD and control group. Muscle-specific mi RNAswere significantly over-expressed in the whole blood of DMD children compared to the healthy ones(P<0.05).2. The correlationship between the whole blood muscle-specific mi RNAs and age, the power of muscle and the muscular function. The expression of the whole boold muscle-specific mi RNAs in the DMD children had a low negative correlation with age(P<0.05), but a moderate positive correlation with the power of muscle and the muscular function(P<0.05). 3. The result of ROC curve. ROC curve showed the whole boold muscle-specific mi RNAs of DMD children in AUC≥0.87, and their sensitivity and specificity were good.Conclusion The muscle-specific mi RNAs expression in the whole blood is closely related to clinical disease progression, which can be used as a kind of new, non-invasive biomarkers for DMD diagnosis. In the clinical work, we need not to separate boold in serum but to directly measure the expression of muscle-specific mi RNAs for DMD screening, providinga new theoretical basis for the diagnosis of DMD. |
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