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脑胶质瘤中呼吸链复合体I基因的线粒体DNA变化

Mitochondrial DNA Changes in Respiratory Complex I Genes in Brain Gliomas.

作者信息

Kozakiewicz Paulina, Grzybowska-Szatkowska Ludmiła, Ciesielka Marzanna, Całka Paulina, Osuchowski Jacek, Szmygin Paweł, Jarosz Bożena, Ostrowska-Leśko Marta, Dudka Jarosław, Tkaczyk-Wlizło Angelika, Ślaska Brygida

机构信息

Department of Radiotherapy, Oncology Centre of Lublin St. Jana z Dukli Jaczewskiego 7, 20-090 Lublin, Poland.

Department of Radiotherapy, Medical University in Lublin, Chodźki 7, 20-093 Lublin, Poland.

出版信息

Biomedicines. 2023 Apr 15;11(4):1183. doi: 10.3390/biomedicines11041183.

Abstract

Mitochondria are organelles necessary for oxidative phosphorylation. The interest in the role of mitochondria in the process of carcinogenesis results from the fact that a respiratory deficit is found in dividing cells, especially in cells with accelerated proliferation. The study included tumor and blood material from 30 patients diagnosed with glioma grade II, III and IV according to WHO (World Health Organization). DNA was isolated from the collected material and next-generation sequencing was performed on the MiSeqFGx apparatus (Illumina). The study searched for a possible relationship between the occurrence of specific mitochondrial DNA polymorphisms in the respiratory complex I genes and brain gliomas of grade II, III and IV. The impact of missense changes on the biochemical properties, structure and functioning of the encoded protein, as well as their potential harmfulness, were assessed in silico along with their belonging to a given mitochondrial subgroup. The A3505G, C3992T, A4024G, T4216C, G5046A, G7444A, T11253C, G12406A and G13604C polymorphisms were assessed as deleterious changes in silico, indicating their association with carcinogenesis.

摘要

线粒体是氧化磷酸化所必需的细胞器。人们对线粒体在致癌过程中的作用感兴趣,是因为在分裂细胞中发现了呼吸缺陷,尤其是在增殖加速的细胞中。该研究纳入了30例根据世界卫生组织(WHO)诊断为II、III和IV级神经胶质瘤患者的肿瘤和血液样本。从收集的样本中分离出DNA,并在MiSeqFGx仪器(Illumina)上进行下一代测序。该研究探寻呼吸复合体I基因中特定线粒体DNA多态性的出现与II、III和IV级脑胶质瘤之间可能存在的关系。错义变化对编码蛋白的生化特性、结构和功能的影响,以及它们的潜在危害性,连同它们所属的特定线粒体亚组一起在计算机上进行了评估。A3505G、C3992T、A4024G、T4216C、G5046A、G7444A、T11253C、G12406A和G13604C多态性在计算机上被评估为有害变化,表明它们与致癌作用有关。

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本文引用的文献

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The Role of Mitochondria in Carcinogenesis.线粒体在癌症发生中的作用。
Int J Mol Sci. 2021 May 12;22(10):5100. doi: 10.3390/ijms22105100.
2
Pfam: The protein families database in 2021.Pfam:2021 年的蛋白质家族数据库。
Nucleic Acids Res. 2021 Jan 8;49(D1):D412-D419. doi: 10.1093/nar/gkaa913.
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Understanding Mitochondrial Polymorphisms in Cancer.了解癌症中的线粒体多态性。
Cancer Res. 2017 Nov 15;77(22):6051-6059. doi: 10.1158/0008-5472.CAN-17-1939. Epub 2017 Nov 2.

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