Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy.
Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy.
复制标题
血清 MyomiRs 作为女性杜兴/贝克肌营养不良症携带者的生物标志物
DOI：
10.3389/fneur.2020.563609
复制
发表时间：
2020
影响因子：
3.4
通讯作者：
Lan D
中科院分区：
文献类型：
--
作者：
Zhang J;Meng Q;Zhong J;Zhang M;Qin X;Ni X;Ma J;He Y;Zeng D;Lan D
背景：Duchenne/Becker肌营养不良症（DMD/BMD）是一种X连锁隐性致死性神经肌肉疾病。在横纹肌中表达的microRNA，myomiRs，已被提出作为其潜在的生物标志物。血清肌酸激酶（CK）是临床上常用的生物标志物，但其可靠性不高。本研究的目的是评估血清myomiRs水平是否对检测CK正常或升高的女性DMD/BMD携带者具有诊断价值。方法：选择34例女性携带者和33例年龄匹配的健康女性对照。收集外周血样本，提取血清miRNA，通过定量实时聚合酶链反应测量miR-1、miR-133 a、miR-133 b、miR-206、miR-208 a、miR-208 b和miR-499。结果如下：与健康对照相比，所有女性携带者中miR-1、miR-133 a、miR-133 b、miR-206、miR-208 a、miR-208 b和miR-499均上调。在女性携带者组中，miR-1（斯皮尔曼rho =+0.406，p = 0.017）与CK相关。所有7种myomiR的受试者工作特征曲线分析显示，miR-499、miR-133 b、miR-1、miR-208 b和miR-133 a的曲线下面积（AUC）超过70.0%，miR-206和miR-208 a超过60.0%。miR-133 b和miR-499在所有女性携带者中显著增加，即使是CK正常的女性也是如此。所有7种miRNA组合的AUC为87.2%。在多变量回归分析模型中，CK（OR 0.406，95% CI 0.000-0.001，p < 0.0001）和miR-499（OR 0.323，95% CI 0.023-0.106，p = 0.003）被认为是女性携带者存在的独立预测因子。结论：miR-133 b和miR-499是女性DMD/BMD携带者（包括CK正常者）潜在的有用生物标志物。所有七种血清miRNA的组合以及它们各自与CK的组合对于女性携带者具有比CK或任何单独的miRNA更好的诊断价值。
Background: Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive lethal neuromuscular disease. MicroRNAs expressed in striated muscle, myomiRs, have been proposed as its potential biomarkers. Serum creatine kinase (CK) is commonly used as a biomarker in clinical practice, but it is not reliable. The aim of this study was to assess whether serum levels of myomiRs has diagnostic value for detection of female DMD/BMD carriers with normal or elevated CK. Methods: Thirty four female carriers and 33 age-matched healthy female controls were enrolled. Peripheral blood samples were collected and serum miRNAs were extracted for measurement of miR-1, miR-133a, miR-133b, miR-206, miR-208a, miR-208b, and miR-499 by quantitative real-time polymerase chain reaction. Results: MiR-1, miR-133a, miR-133b, miR-206, miR-208a, miR-208b, and miR-499 were upregulated in all female carriers in comparison to healthy controls. MiR-1 (Spearman's rho = +0.406, p = 0.017) was correlated with CK in the female carrier group. Receiver operating characteristic curve analysis of all seven myomiRs showed that the area under the curve (AUC) for miR-499, miR-133b, miR-1, miR-208b, and miR-133a exceeded 70.0%, and for miR-206 and miR-208a exceeded 60.0%. MiR-133b and miR-499 were significantly increased in all female carriers, even those with normal CK. AUC for the combination of all seven miRNAs was 87.2%. CK (OR 0.406, 95% CI 0.000–0.001, p < 0.0001) and miR-499 (OR 0.323, 95% CI 0.023–0.106, p = 0.003) were considered to be independent predictors for female carriers presence in the multivariable regression analysis model. Conclusions: MiR-133b and miR-499 are potentially useful biomarkers for female carriers with DMD/BMD (including those with normal CK). The combination of all seven serum miRNAs and their respective combinations with CK have better diagnostic value for female carriers than either CK or any separate miRNA.
登录
查看更多内容
杜氏肌营养不良症患者的循环肌肉特异性 miRNA
DOI：
10.1038/mtna.2014.29
发表时间：
2014-07-22
期刊：
Molecular therapy. Nucleic acids
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.8
作者：
Papa, Riccardo;Madia, Francesca;Fiorillo, Chiara
通讯作者：
Fiorillo, Chiara
影响因子：
4.6
作者：
Israeli D;Poupiot J;Amor F;Charton K;Lostal W;Jeanson-Leh L;Richard I
通讯作者：
Richard I
影响因子：
5
作者：
Obuchowski, NA
通讯作者：
Obuchowski, NA
DOI：
10.1073/pnas.0804549105
发表时间：
2008-07-29
影响因子：
11.1
作者：
Mitchell, Patrick S.;Parkin, Rachael K.;Tewari, Muneesh
通讯作者：
Tewari, Muneesh