神经肌肉疾病(NMD)是一类以肌肉消瘦为特征的进行性疾病。一些疾病,如杜氏肌营养不良症(DMD),Becker肌营养不良(BMD),先天性肌营养不良(CMD),肢带肌营养不良(LGMD),和轻度脊髓性肌萎缩症(SMA)III型共有几种临床特征,因此,诊断通常是一项具有挑战性的任务。在这项研究中,我们评估了一些已知在正常和病理情况下肌细胞(MyomiRs)发挥作用的microRNAs(miRNAs)的诊断潜力,以评估其在NMDs鉴别诊断中的潜力.在这项研究中,纳入74名患有不同神经肌肉疾病的患者以及30名年龄匹配的健康对照受试者。从登记的受试者收集外周血样品,然后进行miRNA提取和逆转录,然后定量研究的miRNA的循环水平(miR-499,miR-206,miR-208a,miR-223,miR-191,miR-103a-3p,miR-103a-5p),通过实时PCR和统计分析。数据表明miR-499水平在DMD患者以及患有其他相关疾病如BMD的患者中显示高循环水平。然而,miR-499在DMD患者中的水平更高,可用于DMD的诊断.此外,miR-206可以选择性区分DMD和所有其他疾病。结果还显示,miR-208a和miR-223在SMA患者中显著失调,miR-103a-3p可以区分DMD和BMD。一些miRNA的表达水平可用于NMDs的鉴别诊断,并可作为诊断生物标志物。这些发现将为产生靶向治疗铺平道路。
Neuromuscular disorders (NMD) are a class of progressive disorders that are characterized by wasting of the muscles. Some of the disorders like Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), congenital muscular dystrophies (CMDs), limb-girdle muscular dystrophies (LGMD), and mild spinal muscular atrophy (SMA) type III share several presenting clinical features, and hence, diagnosis is usually a challenging task. In this study, the diagnostic potential of some species of microRNAs (miRNAs) that are known to play roles in normal and pathological contexts of myocytes (myomiRs) were evaluated to assess their potential in differential diagnosis of NMDs. In this study, seventy-four patients with different neuromuscular disorders along with thirty age-matched healthy control subjects were enrolled. Peripheral blood samples were collected from enrolled subjects followed by miRNA extraction and reverse transcription followed by quantification of the circulating levels of the studied miRNAs (miR-499, miR-206, miR-208a, miR-223, miR-191, miR-103a-3p, miR-103a-5p), by real-time PCR and statistical analysis. The data indicated that miR-499 level showed high circulating levels in DMD patients as well as in patients with other related disorders such as BMD. However, the levels of miR-499 were much higher in DMD patients and it can be used to diagnose DMD. In addition, miR-206 can selectively differentiate between DMD and all other disorders. The results also revealed that miR-208a and miR-223 were significantly dysregulated in SMA patients, and miR-103a-3p could distinguish DMD from BMD. The expression levels of some miRNA species can be utilized in the process of differential diagnosis of NMDs and can serve as a diagnostic biomarker, and such findings will pave the way towards generating targeted therapies.