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首页> 外文期刊>BMC Medical Genomics >Integrative analysis of congenital muscular torticollis: from gene expression to clinical significance
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Integrative analysis of congenital muscular torticollis: from gene expression to clinical significance

机译：先天性肌肉叉肠中的综合分析：从基因表达到临床意义

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Background Congenital muscular torticollis (CMT) is characterized by thickening and/or tightness of the unilateral sternocleidomastoid muscle (SCM), ending up with torticollis. Our aim was to identify differentially expressed genes (DEGs) and novel protein interaction network modules of CMT, and to discover the relationship between gene expressions and clinical severity of CMT. Results Twenty-eight sternocleidomastoid muscles (SCMs) from 23 subjects with CMT and 5 SCMs without CMT were allocated for microarray, MRI, or imunohistochemical studies. We first identified 269 genes as the DEGs in CMT. Gene ontology enrichment analysis revealed that the main function of the DEGs is for extracellular region part during developmental processes. Five CMT-related protein network modules were identified, which showed that the important pathway is fibrosis related with collagen and elastin fibrillogenesis with an evidence of DNA repair mechanism. Interestingly, the expression levels of the 8 DEGs called CMT signature genes whose mRNA expression was double-confirmed by quantitative real time PCR showed good correlation with the severity of CMT which was measured with the pre-operational MRI images (R2 ranging from 0.82 to 0.21). Moreover, the protein expressions of ELN, ASPN and CHD3 which were identified from the CMT-related protein network modules demonstrated the differential expression between the CMT and normal SCM. Conclusions We here provided an integrative analysis of CMT from gene expression to clinical significance, which showed good correlation with clinical severity of CMT. Furthermore, the CMT-related protein network modules were identified, which provided more in-depth understanding of pathophysiology of CMT.
机译：背景技术先天性肌肉肉饼（CMT）的特征在于单侧胸骨肌瘤肌肉（SCM）的增厚和/或紧张，以斜颈结束。我们的目的是鉴定CMT的差异表达基因（DEGS）和新型蛋白质相互作用网络模块，并发现基因表达与CMT的临床严重程度之间的关系。结果为微阵列，MRI或Imunohistochemical研究分配了28名患有CMT和5个SCM的28个受试者的胸骨肌瘤肌肉（SCM）。我们首先将269个基因鉴定为CMT中的次数。基因本体富集分析显示，在发育过程中，DEG的主要功能是用于细胞外区域部分。鉴定了五种CMT相关的蛋白质网络模块，表明重要途径是与胶原蛋白和弹性蛋白原纤维生成有关的纤维化，其具有DNA修复机制的证据。有趣的是，通过定量实时PCR通过定量实时PCR进行多种MRNA表达的CMT特征基因的表达水平与使用预运算的MRI图像测量的CMT的严重程度良好相关（R 2 < / sup>范围为0.82至0.21）。此外，从CMT相关蛋白网络模块中鉴定的ELN，ASPN和CHD3的蛋白质表达证明了CMT和正常SCM之间的差异表达。结论我们在这里提供了对CMT的一致性分析，从基因表达到临床意义，表明与CMT的临床严重程度良好相关。此外，鉴定了CMT相关的蛋白质网络模块，其提供了更深入地了解CMT的病理生理学。

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