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首页> 外文期刊>Neuromuscular disorders: NMD >Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy
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Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

机译：miR-30c 和 miR-181a 作为杜氏肌营养不良症血清生物标志物的数字 PCR 定量

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Circulating microRNAs (miRs/miRNAs) are being used as non-invasive biomarkers for diagnosis, prognosis and efficiency of clinical trials. However, to exploit their potential it is necessary to improve and standardize their detection. In a previous study, we identified two microRNAs, miR-30c and miR-181a, that appear to be key regulators of muscular dystrophy. We hypothesized that they could represent useful biomarkers of Duchenne and Becker muscular dystrophies (DMD and BMD). The objective of this study was to assess the absolute levels of miR-30c and miR-181a in sera of DMD and BMD patients using digital PCR (a robust technique for precise and direct quantification of small amounts of nucleic acids without standard curves and external references), and investigate the correlation between miR-30c and miR-181a expressions and several clinical parameters. Our results show that the serum levels of miR-30c and miR-181a increased 7- and 6-fold respectively in DMD patients (n = 21,2-14 years, ambulant), and 7-fold in BMD patients (n = 5,9-15 years) compared to controls (n = 22,2-14 years). No association between miRNA levels and age or corticosteroid treatment was detected in DMD. However, there was a trend towards higher levels of miR-30c in DMD patients with better preserved motor function according to various motor scales and timed tests. We demonstrate that digital PCR is a useful technique for accurate absolute quantification of microRNAs in sera of DMD/BMD patients. We propose miR-30c and miR-181a as reliable serum diagnostic biomarkers for DMD and BMD and miR-30c as a potential novel biomarker to assess disease severity in DMD.
机译：循环microRNA（miR/miRNA）被用作临床试验诊断、预后和效率的非侵入性生物标志物。然而，为了挖掘它们的潜力，有必要改进和标准化它们的检测。在之前的一项研究中，我们发现了两种microRNA，miR-30c和miR-181a，它们似乎是肌肉萎缩症的关键调节因子。我们假设它们可以代表 Duchenne 和 Becker 肌营养不良症（DMD 和 BMD）的有用生物标志物。本研究的目的是使用数字 PCR（一种无需标准曲线和外部参考即可精确和直接定量少量核酸的稳健技术）评估 DMD 和 BMD 患者血清中 miR-30c 和 miR-181a 的绝对水平，并研究 miR-30c 和 miR-181a 表达与几个临床参数之间的相关性。我们的结果表明，与对照组（n = 22,2-14 年）相比，DMD 患者（n = 21,2-14 岁，步行）的血清 miR-30c 和 miR-181a 水平分别增加了 7 倍和 7 倍（n = 5,9-15 年）。在DMD中未检测到miRNA水平与年龄或皮质类固醇治疗之间的关联。然而，根据各种运动量表和定时测试，DMD 患者的 miR-30c 水平有更高的趋势，这些患者的运动功能得到了更好的保留。我们证明数字PCR是一种有用的技术，可以准确绝对定量DMD / BMD患者血清中的microRNA。我们建议将 miR-30c 和 miR-181a 作为 DMD 和 BMD 的可靠血清诊断生物标志物，并将 miR-30c 作为评估 DMD 疾病严重程度的潜在新型生物标志物。

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