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Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis
BioMed Research International ( IF 3.246 ) Pub Date : 2020-09-24 , DOI: 10.1155/2020/1353516
Min Zhong 1 , Qing Luo 1 , Ting Ye 1 , XiDan Zhu 1 , Xiu Chen 2 , JinBo Liu 1
Affiliation  

Charcot-Marie-Tooth Disease (CMT) is the most common clinical genetic disease of the peripheral nervous system. Although many studies have focused on elucidating the pathogenesis of CMT, few focuses on achieving a systematic analysis of biology to decode the underlying pathological molecular mechanisms and the mechanism of its disease remains to be elucidated. So our study may provide further useful insights into the molecular mechanisms of CMT based on a systematic bioinformatics analysis. In the current study, by reviewing the literatures deposited in PUBMED, we identified 100 genes genetically related to CMT. Then, the functional features of the CMT-related genes were examined by R software and KOBAS, and the selected biological process crosstalk was visualized with the software Cytoscape. Moreover, CMT specific molecular network analysis was conducted by the Molecular Complex Detection (MCODE) Algorithm. The biological function enrichment analysis suggested that myelin sheath, axon, peripheral nervous system, mitochondrial function, various metabolic processes, and autophagy played important roles in CMT development. Aminoacyl-tRNA biosynthesis, metabolic pathways, and vasopressin-regulated water reabsorption were significantly enriched in the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway network, suggesting that these pathways may play key roles in CMT occurrence and development. According to the crosstalk, the biological processes could be roughly divided into a correlative module and two separate modules. MCODE clusters showed that in top 3 clusters, 13 of CMT-related genes were included in the network and 30 candidate genes were discovered which might be potentially related to CMT. The study may help to update the new understanding of the pathogenesis of CMT and expand the potential genes of CMT for further exploration.

中文翻译:

通过网络和途径分析鉴定与夏科-玛丽-牙齿疾病有关的候选基因

Charcot-Marie-Tooth Disease(CMT)是周围神经系统最常见的临床遗传病。尽管许多研究集中在阐明CMT的发病机理上,但很少有研究集中在对生物学进行系统分析以解码潜在的病理分子机制上,而其疾病的机制尚待阐明。因此,我们的研究可能会基于系统的生物信息学分析为CMT的分子机制提供进一步有用的见解。在当前的研究中,通过回顾PUBMED中保存的文献,我们鉴定了100种与CMT遗传相关的基因。然后,通过R软件和KOBAS检查CMT相关基因的功能特征,并使用Cytoscape软件可视化所选的生物过程串扰。此外,CMT特定分子网络分析是通过分子复合物检测(MCODE)算法进行的。生物学功能富集分析表明,髓鞘,轴突,周围神经系统,线粒体功能,各种代谢过程和自噬在CMT发展中起重要作用。京都基因与基因组百科全书(KEGG)途径网络显着丰富了氨酰基-tRNA的生物合成,代谢途径和加压素调节的水重吸收,表明这些途径可能在CMT发生和发展中发挥关键作用。根据串扰,生物学过程可以大致分为相关模块和两个独立的模块。MCODE群集显示,在前3个群集中,网络中包含13个与CMT相关的基因,发现了30个可能与CMT相关的候选基因。该研究可能有助于更新对CMT发病机制的新认识,并扩展CMT的潜在基因,以供进一步探索。
更新日期:2020-09-24
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