三种用于肢带型肌营养不良症、面肩肱型肌营养不良症和贝克型肌营养不良症的新型血清生物标志物，即miR-1、miR-133a和miR-206 。
Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.
作者信息
Matsuzaka Yasunari, Kishi Soichiro, Aoki Yoshitsugu, Komaki Hirofumi, Oya Yasushi, Takeda Shin-Ichi, Hashido Kazuo
机构信息
Administrative Section of Radiation Protection, National Institute of Neuroscience, Tokyo, Japan.
出版信息
Environ Health Prev Med. 2014 Nov;19(6):452-8. doi: 10.1007/s12199-014-0405-7. Epub 2014 Aug 24.
OBJECTIVES
Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker. However, because CK levels can be altered by various other factors, such as vigorous exercise, etc., false positive is observed. Therefore, three microRNAs (miRNAs), miR-1, miR-133a, and miR-206, were previously reported as alternative biomarkers for duchenne muscular dystrophy (DMD). However, no alternative biomarkers have been established for the other muscular dystrophies.
METHODS
We, therefore, evaluated whether these miR-1, miR-133a, and miR-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including DMD, myotonic dystrophy 1 (DM1), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), becker muscular dystrophy (BMD), and distal myopathy with rimmed vacuoles (DMRV) by qualitative polymerase chain reaction (PCR) amplification assay.
RESULTS
Statistical analysis indicated that all these miRNA levels in serum represented no significant differences between all muscle disorders examined in this study and controls by Bonferroni correction. However, some of these indicated significant differences without correction for testing multiple diseases (P < 0.05). The median values of miR-1 levels in the serum of patients with LGMD, FSHD, and BMD were approximately 5.5, 3.3 and 1.7 compared to that in controls, 0.68, respectively. Similarly, those of miR-133a and miR-206 levels in the serum of BMD patients were about 2.5 and 2.1 compared to those in controls, 1.03 and 1.32, respectively.
CONCLUSIONS
Taken together, our data demonstrate that levels of miR-1, miR-133a, and miR-206 in serum of BMD and miR-1 in sera of LGMD and FSHD patients showed no significant differences compared with those of controls by Bonferroni correction. However, the results might need increase in sample sizes to evaluate these three miRNAs as variable biomarkers.
目的
肌营养不良症是一组临床和遗传异质性的遗传性肌源性疾病。在这些疾病的临床检测中，肌酸激酶（CK）通常用作基于血液的诊断生物标志物。然而，由于CK水平会受到各种其他因素的影响，如剧烈运动等，会出现假阳性结果。因此，先前有报道称三种 microRNA（miRNA），即 miR-1、miR-133a 和 miR-206，可作为杜氏肌营养不良症（DMD）的替代生物标志物。然而，尚未为其他肌营养不良症建立替代生物标志物。
方法
因此，我们通过定性聚合酶链反应（PCR）扩增试验，使用包括 DMD、强直性肌营养不良 1 型（DM1）、肢带型肌营养不良症（LGMD）、面肩肱型肌营养不良症（FSHD）、贝氏肌营养不良症（BMD）和伴有镶边空泡的远端肌病（DMRV）在内的肌营养不良症患者的血清，评估这些 miR-1、miR-133a 和 miR-206 是否可用作有力的生物标志物。
结果
统计分析表明，通过 Bonferroni 校正，本研究中检测的所有肌肉疾病患者血清中的所有这些 miRNA 水平与对照组之间均无显著差异。然而，其中一些在未对多种疾病进行校正的检测中显示出显著差异（P < 0.05）。与对照组（分别为 0.68）相比，LGMD、FSHD 和 BMD 患者血清中 miR-1 水平的中位数分别约为 5.5、3.3 和 1.7。同样，与对照组（分别为 1.03 和 1.32）相比，BMD 患者血清中 miR-133a 和 miR-206 水平的中位数分别约为 2.5 和 2.1。
结论
综上所述，我们的数据表明，经 Bonferroni 校正后，BMD 患者血清中 miR-1、miR-133a 和 miR-206 的水平以及 LGMD 和 FSHD 患者血清中 miR-1 的水平与对照组相比无显著差异。然而，可能需要增加样本量来评估这三种 miRNA 作为可变生物标志物的情况。
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