Curila Karol, Benesova Lucie, Tomasov Pavol, Belsanova Barbora, Widimsky Petr, Minarik Marek, Zemanek David, Veselka Josef, Gregor Pavel
Cardiocenter, Department of Cardiology, 3rd Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic.
Cardiology. 2015;130(3):137-42. doi: 10.1159/000369247. Epub 2015 Jan 24.
A substantial proportion of patients with hypertrophic cardiomyopathy (HCM) do not have causative mutations in the genes for heart sarcomere. The purpose of this study was to evaluate the association between microRNA (miRNA) sequence variants and HCM.
We performed genetic testing on 56 HCM patients who had previously been found to be negative for mutations in the 4 major genes for sarcomeric proteins. The coding and adjacent regions (120-220 nt) of selected miRNAs were analyzed for the presence of sequence variants. The testing was based on PCR amplification of DNA-encoding miRNAs and subsequent denaturing capillary electrophoresis.
A total of 3 different variants were detected in the 11 selected miRNAs. These included polymorphisms rs45489294 in miRNA 208b, rs13136737 in miRNA 367 and rs9989532 in miRNA 1-2. In the patient group, the most frequent polymorphism was in miRNA 208b (10 times) followed by miRNA 367 (7 times). Both polymorphisms were found to occur with similar frequencies in the group of healthy controls. The remaining detected variant was not present in the control group, but was not connected with the HCM phenotype in the children of the probands.
Sequence variants in miRNAs of patients with HCM are not frequent and the contribution of these variants to the development of this disease was not demonstrated.
相当一部分肥厚型心肌病（HCM）患者在心脏肌节基因中没有致病突变。本研究的目的是评估微小RNA（miRNA）序列变异与HCM之间的关联。
我们对56例先前被发现肌节蛋白4个主要基因的突变检测呈阴性的HCM患者进行了基因检测。分析所选miRNA的编码区和相邻区域（120 - 220 nt）是否存在序列变异。检测基于编码miRNA的DNA的PCR扩增及随后的变性毛细管电泳。
在11个所选miRNA中总共检测到3种不同的变异。这些包括miRNA 208b中的多态性rs45489294、miRNA 367中的rs13136737以及miRNA 1 - 2中的rs9989532。在患者组中，最常见的多态性存在于miRNA 208b（10次），其次是miRNA 367（7次）。在健康对照组中发现这两种多态性的出现频率相似。其余检测到的变异在对照组中不存在，但在先证者的子代中与HCM表型无关。
HCM患者miRNA中的序列变异并不常见，且未证实这些变异对该疾病发展的作用。
