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首页> 外文期刊>Balkan journal of medical genetics: BJMG >THE MITOCHONDRIAL tRNA(Gly) T10003C MUTATION MAY NOT BE ASSOCIATED WITH DIABETES MELLITUS
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THE MITOCHONDRIAL tRNA(Gly) T10003C MUTATION MAY NOT BE ASSOCIATED WITH DIABETES MELLITUS

机译：线粒体TRNA（GLY）T10003C突变可能与糖尿病无关

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摘要

Mitochondrial DNA (mtDNA) mutations have long been proposed to play important roles in the pathogenesis of diabetes mellitus (DM). A large proportion of these mutations are localized at the mt-tRNA genes. Owing to its high mutation rate, a growing number of mt-tRNA mutations have been reported; however some of them are neutral genetic polymorphisms and will not result in the alteration of the mitochondria' function responsible for DM. In this study, we reassessed a recent reported "pathogenic" mutation, tRNA(Gly) T10003C, in a clinical manifestation of DM. We first performed the conservation assessment of this mutation between different species. Moreover, the bioinformatics analysis was used to predict the secondary structure of mt-tRN(Gly) in wild type version and the mutant carrying the T10003C mutation. We also screened the presence of the T10003C mutation in 500 unrelated DM patients and 300 healthy controls. We noticed that the T10003C mutation was not very conserved and did not cause the secondary structure change of mt-tRNA(Gly). Moreover, this mutation was absent in the 500 unrelated DM patients and controls, suggesting that this mutation may be a rare event in the human population. In conclusion, the current study showed no association between the T10003C mutation and DM in humans.
机译：长期以来已经提出了线粒体DNA（MTDNA）突变在糖尿病（DM）的发病机制中起重要作用。大部分这些突变在MT-TRNA基因中定位。由于其高突变率，据报道了越来越多的MT-TRNA突变;然而，其中一些是中性遗传多态性，不会导致对DM负责的线粒体功能的改变。在这项研究中，我们重新评估了最近报道的“致病性”突变，TRNA（GLY）T10003C，在DM的临床表现中。我们首先进行了对不同物种之间这种突变的保护评估。此外，使用生物信息学分析来预测野生型版本中MT-TRN（GLY）的二次结构和携带T10003C突变的突变体。我们还筛选了500例无关的DM患者和300例健康对照中T10003C突变的存在。我们注意到T10003C突变并不是很保守，并且没有引起MT-TRNA（GLY）的二次结构变化。此外，在500例不相关的DM患者和对照中，这种突变不存在，这表明这种突变可能是人口中的罕见事件。总之，目前的研究显示了人类T10003C突变与DM之间的关联。

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