Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder that occurs due to inactivating mutations in DMD gene, leading to muscular dystrophy. Prediction of pathological complications of DMD and the identification of female carriers are important research points that aim to reduce disease burden. Herein, we describe a case of a late DMD patient and his immediate female family members, who all carry same DMD mutation and exhibited varied degrees of symptoms. In our study, we sequenced the whole miRNome in leukocytes and plasma of the family members and results were validated using Real-Time PCR. Our results highlighted the role of miR-409-3p, miR-424-5p, miR-144-3p as microRNAs that show correlation with the extent of severity of muscular weakness and can be used for detection of asymptomatic carriers. Cellular and circulating levels of miR-494-3p had showed significant increase in symptomatic carriers, which may indicate significant roles played by this miRNA in the onset of muscular weakness. Interestingly, circulating levels of miR-206 and miR-410-3p were significantly increased only in the severely symptomatic carrier. In conclusion, our study highlighted several miRNA species, which could be used in predicting the onset of muscle and/or neurological complications in DMD carriers.

中文翻译：

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Duchenne 肌营养不良症中的 MiRNome 分析；识别无症状和有表现的女性携带者。

杜氏肌营养不良症 (DMD) 是一种致命的神经肌肉疾病，由于 DMD 基因的失活突变而发生，导致肌营养不良症。DMD病理并发症的预测和女性携带者的鉴定是旨在减轻疾病负担的重要研究点。在此，我们描述了一例晚期 DMD 患者及其直系女性家属，他们都携带相同的 DMD 突变并表现出不同程度的症状。在我们的研究中，我们对家族成员的白细胞和血浆中的整个 miRNome 进行了测序，并使用实时 PCR 验证了结果。我们的研究结果强调了 miR-409-3p、miR-424-5p、miR-144-3p 作为与肌肉无力严重程度相关的 microRNA 的作用，可用于检测无症状携带者。miR-494-3p 的细胞和循环水平在有症状的携带者中显示出显着增加，这可能表明该 miRNA 在肌肉无力的发作中起重要作用。有趣的是，miR-206 和 miR-410-3p 的循环水平仅在症状严重的携带者中显着增加。总之，我们的研究强调了几种 miRNA 种类，它们可用于预测 DMD 携带者肌肉和/或神经系统并发症的发生。