Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy
Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy
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DOI：
10.1007/s12199-014-0405-7
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发表时间：
2014-11-01
影响因子：
4.7
通讯作者：
Hashido, Kazuo
中科院分区：
文献类型：
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作者：
Matsuzaka, Yasunari;Kishi, Soichiro;Hashido, Kazuo
肌营养不良症是一种临床和遗传异质性的遗传性肌原性疾病。在这些疾病的临床试验中，肌酸激酶（CK）通常被用作诊断性血液生物标志物。然而，由于CK水平可以被各种其他因素改变，例如剧烈运动等，因此观察到假阳性。因此，三种microrna (mirna), miR-1， miR-133a和miR-206，先前被报道为杜氏肌营养不良症（DMD）的替代生物标志物。然而，对于其他肌肉萎缩症，还没有其他的生物标志物。因此，我们通过定性聚合酶链反应（PCR）扩增试验，评估了miR-1、miR-133a和miR-206是否可以作为强有力的生物标志物，使用肌营养不良患者的血清，包括DMD、肌强直性营养不良1 （DM1）、肢带肌营养不良（LGMD）、面肩肱肌营养不良（FSHD）、贝克肌营养不良（BMD）和远端肌病带边缘空泡（DMRV）。统计分析表明，本研究检查的所有肌肉疾病与Bonferroni校正对照组之间，血清中所有这些miRNA水平均无显著差异。但在未进行多病校正的情况下，部分差异有统计学意义（P < 0.05）。LGMD、FSHD和BMD患者血清miR-1水平的中位数分别约为5.5、3.3和1.7，而对照组为0.68。同样，与对照组相比，BMD患者血清中miR-133a和miR-206水平分别约为2.5和2.1，分别为1.03和1.32。综上所述，我们的数据表明，通过Bonferroni校正，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，结果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。
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.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.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.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.