Department of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Luzhou, 646000 Sichuan, China.
Department of Neurology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Luzhou, 646000 Sichuan, China.
Biomed Res Int. 2020 Sep 23;2020:1353516. doi: 10.1155/2020/1353516. eCollection 2020.
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.
遗传性周围神经病中最常见的临床遗传病是 Charcot-Marie-Tooth 病（CMT）。尽管许多研究都集中在阐明 CMT 的发病机制上，但很少有研究集中在实现对生物学的系统分析，以解码潜在的病理分子机制，其发病机制仍有待阐明。因此，我们的研究可能为基于系统生物信息学分析的 CMT 的分子机制提供进一步的有用见解。在本研究中，通过对 PUBMED 中已发表文献的回顾，我们确定了 100 个与 CMT 相关的基因。然后，使用 R 软件和 KOBAS 检查 CMT 相关基因的功能特征，并使用软件 Cytoscape 可视化选择的生物学过程相互作用。此外，通过分子复合物检测（MCODE）算法进行 CMT 特异性分子网络分析。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 发展中起着重要作用。氨基酸酰基-tRNA 生物合成、代谢途径和加压素调节的水重吸收在京都基因与基因组百科全书（KEGG）通路网络中显著富集，表明这些途径可能在 CMT 的发生和发展中起关键作用。根据相互作用，生物学过程大致可分为一个相关模块和两个独立模块。MCODE 聚类显示，在 top 3 聚类中，有 13 个 CMT 相关基因包含在网络中，并发现了 30 个候选基因，这些基因可能与 CMT 有关。该研究可能有助于更新对 CMT 发病机制的新认识，并为进一步探索扩大 CMT 的潜在基因。
