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首页> 外文期刊>Journal of Clinical and Diagnostic Research >A Comprehensive In-Silico Analysis of Deleterious Missense SNPs in Human Trehalase Gene: Gaining an Interactome Insights into Type 2 Diabetes Mellitus
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A Comprehensive In-Silico Analysis of Deleterious Missense SNPs in Human Trehalase Gene: Gaining an Interactome Insights into Type 2 Diabetes Mellitus

机译：Silico综合性分析人类海藻酶基因中有害密义SNP的分析：在2型糖尿病中获得互乱的互动洞察力

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Trehalase (TREH), a glycoside hydrolase enzyme that catalyses the conversion of trehalose to glucose in sugar metabolism. In spite of severe health threats caused by diabetes worldwide, no systematic and programmed study on human TREH Single Nucleotide Polymorphism (SNPs) and its functional role in Type 2 Diabetes Mellitus (T2DM) has been performed.Aim: This study aimed to identify pathogenic missense SNPs in the human TREH gene.Materials and Methods: A series of different bioinformatic tools including SIFT, Polyphen, I-mutant, Variant Effect Predictor, Project Hope and GeneMANNIA were used for this study. At all stages, a p-value of 0.05 was considered as statistically significant.Results: This study demonstrated 10 potential mutations out of 241 missense human TREH SNPs from the dbSNP database of NCBI, three of which confirmed to have damaging effects on protein function. Out of these three, rs535722007 had the most deleterious effect that altered secondary properties and tertiary structure of the experimental TREH protein and decreased the stability. Further analysis showed a strong connection among TREH, Insulin (INS), and other genes of carbohydrate metabolism associated with T2DM. Gene expression studies found the down-regulation of TREH in all of the experimental studies linked toT2DM.Conclusion: As the probability of the disease predisposition increases with SNPs in primary or co-expressed gene(s), therefore, characterisation of TREH SNPs from human and its gene networking analysis can aid in better understanding of genetic variations and signalling pathways as well as to elucidate the effective diagnostic and treatment strategies.
机译：海藻糖酶（Tree），一种糖苷水解酶，其催化海藻糖转化为糖代谢的葡萄糖。尽管在全球糖尿病造成的严重健康威胁，但没有对人Tree核苷酸多态性（SNP）的系统和编程的研究已经进行了2型糖尿病（T2DM）。目的：这项研究旨在鉴定人Treeh基因中的病原畸形SNP。材料和方法：一系列不同的生物信息工具，包括Sift，Polyphen，I-突变体，变体效果预测因子，项目希望和总因症。在所有阶段，P值为0.05被认为是统计学意义。结果：本研究表明，来自NCBI的DBSNP数据库中的241名畸形人体硬盘SNP中展示了10个潜在的突变，其中三个证实对其进行了破坏性影响蛋白质功能。在这三个中，RS535722007具有最有害的效果，改变了实验性Tree蛋白的二级性质和三级结构并降低了稳定性。进一步的分析显示Treh，胰岛素（INS）和与T2DM相关的碳水化合物代谢的其他基因之间的强烈连接。基因表达研究发现，在所有实验研究中，在所有实验研究中都有联系Tot2DM的下调。结论：由于疾病易感性的概率随着初级或共同表达基因的SNP而增加，因此，TREH的表征来自人类的SNP及其基因网络分析可以帮助更好地了解遗传变异和信号通路以及阐明有效的诊断和治疗策略。

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