Duchenne muscular dystrophy (DMD) is an X-linked genetic neuromuscular disease that is characterized by progressive muscle wasting and by defects in the regenerative capacity and inflammatory infiltration of muscle. Many noncoding RNAs (ncRNAs) participate in the pathophysiological mechanisms of this disease. To explore the role of circular RNAs (circRNAs), a type of ncRNAs, in DMD, microarray analysis was performed to explore the expression patterns of circRNAs in the gastrocnemius muscles in mdx mice, a DMD animal model, and C57 mice. The microarray data were validated by qRT-PCR. Further, gene ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis were performed to predict the function of the differentially expressed circRNAs (DEcRNAs). A circRNA/microRNA (miRNA) interaction network was predicted by bioinformatics. We also predicted the protein-coding ability of the circRNAs based on their N⁶-methyladenosine motifs and open-reading frames. We identified 197 differentially expressed circRNAs between mdx mice and C57 mice. Of the 197 DEcRNAs, 6 circRNAs were randomly selected to validate the microarray data, and twenty-two circRNAs were randomly selected to construct a circRNA/miRNA interaction network. Bioinformatics analysis showed that the linear counterparts of the DEcRNAs were mainly associated with muscle structure, nervous system development, and the cAMP signaling pathway. A total of 189 circRNAs were predicted to have protein-coding potential, and there were 98 circRNAs that could potentially be translated into polypeptides with 150 or more amino acids. This work described the expression pattern of circRNAs in mdx mice and indicated that circRNAs may play pivotal roles in the pathophysiological mechanisms of DMD.

中文翻译：

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全面分析mdRNA小鼠肌肉中circRNA的表达特征及其预测的蛋白质编码能力。

Duchenne肌营养不良症（DMD）是一种X连锁遗传性神经肌肉疾病，其特征是进行性肌肉消瘦以及肌肉的再生能力和炎性浸润缺陷。许多非编码RNA（ncRNA）参与该疾病的病理生理机制。为了探索环形RNA（circRNA）（一种ncRNA）在DMD中的作用，进行了微阵列分析，以探索mdx小鼠，DMD动物模型和C57小鼠腓肠肌中circRNA的表达模式。通过qRT-PCR验证了微阵列数据。此外，进行了基因本体论（GO）和《京都议定书》的基因与基因组百科全书（KEGG）分析，以预测差异表达的circRNA（DEcRNA）的功能。生物信息学预测了circRNA / microRNA（miRNA）相互作用网络。⁶-甲基腺苷基序和开放阅读框架。我们在mdx小鼠和C57小鼠之间鉴定了197个差异表达的circRNA。在197个DEcRNA中，随机选择6个circRNA以验证微阵列数据，并随机选择22个circRNA以构建circRNA / miRNA相互作用网络。生物信息学分析表明，DEcRNA的线性对应物主要与肌肉结构，神经系统发育和cAMP信号通路有关。预计总共189个circRNA具有蛋白质编码潜能，并且有98个circRNA可以潜在地翻译成具有150个或更多氨基酸的多肽。这项工作描述了mdRNA小鼠中circRNA的表达模式，并表明circRNA可能在DMD的病理生理机制中发挥关键作用。