Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer

Yu, Yang; Lv, Feng; Lin, Huan; Qian, Guisheng; Jiang, Yuefu; Pang, L.X.; Wang, Y.P.; Wang, X.F.; Kang, Yimin; Li, C.B.; Liu, Q.; Xu, Jiansong; You, Wei

doi:10.4238/2015.december.21.12

Cited by 20 publications

(11 citation statements)

References 21 publications

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“…They found that many somatic cells exhibited dramatic replicative strand bias, predominantly C→T and A→G on the mitochondrial heavy strand. Similar results were observed in another study (17).…”

Section: Discussionsupporting

confidence: 92%

High incidence of coding gene mutations in mitochondrial DNA in esophageal cancer

Liu

Guo

Chu

et al. 2017

Molecular Medicine Reports

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The aim of the present study was to detect mutations in the coding genes of mitochondrial DNA (mtDNA) in three esophageal cancer cell lines and in tumor tissues obtained from 30 patients with esophageal cancer, to investigate the relationship between protein‑ and RNA‑coding gene mutations and esophageal cancer. mtDNA was extracted and the coding genes were sequenced and analyzed by comparing the sequencing results with the complete mitochondrial genome of Homo sapiens. The results revealed 39 mutations in the three esophageal cancer cell lines; the genes with the highest mutation frequencies included mitochondrially encoded cytochrome B (MT‑CYTB), NADH dehydrogenase 5 (MT‑ND5) and MT‑ND4 gene. A total of 216 mutations were identified in the 30 esophageal cancer tissues, including 182 protein‑coding mutations, of which MT‑CYTB and MT‑ND5 genes exhibited higher mutation frequencies. The results of the present study indicated that mutations in the coding genes of mtDNA in esophageal cancer cells may be related to the occurrence of esophageal cancer.

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Section: Discussionsupporting

confidence: 92%

High incidence of coding gene mutations in mitochondrial DNA in esophageal cancer

Liu

Guo

Chu

et al. 2017

Molecular Medicine Reports

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“…The recognition of the importance of mtDNA mutations as a relevant feature in BC development, metastasis and resistance to treatment, has occurred over the past decade (48,83,84). Both mtDNA germline variants and tumor mutations have been involved in BC (Table II).…”

Section: Mitochondrial Dna Variants In Breast Cancermentioning

confidence: 99%

“…Additionally, differential contribution and interaction between germline variants have been reported to increase BC susceptibility. For example, G10398A has been shown to be associated with an increased risk of BC in European-American, Polish and Malay populations, but not in Hindu and African-American women (57,75,84,(97)(98)(99)(100). Furthermore, T4216C confers a risk of BC only in combination with the G10398A germline variant (97).…”

Section: Mitochondrial Dna Variants In Breast Cancermentioning

confidence: 99%

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

et al. 2018

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High lactate production in cells during growth under oxygen-rich conditions (aerobic glycolysis) is a hallmark of tumor cells, indicating the role of mitochondrial function in tumorigenesis. In fact, enhanced mitochondrial biogenesis and impaired quality control are frequently observed in cancer cells. Mitochondrial DNA (mtDNA) encodes 13 subunits of oxidative phosphorylation (OXPHOS), is present in thousands of copies per cell, and has a very high mutation rate. Mutations in mtDNA and nuclear DNA (nDNA) genes encoding proteins that are important players in mitochondrial biogenesis and function are involved in oncogenic processes. A wide range of germline mtDNA polymorphisms, as well as tumor mtDNA somatic mutations have been identified in diverse cancer types. Approximately 72% of supposed tumor-specific somatic mtDNA mutations reported, have also been found as polymorphisms in the general population. The ATPase 6 and NADH dehydrogenase subunit genes of mtDNA are the most commonly mutated genes in breast cancer (BC). Furthermore, nuclear genes playing a role in mitochondrial biogenesis and function, such as peroxisome proliferators-activated receptor gamma coactivator-1 (PGC-1), fumarate hydratase (FH) and succinate dehydrogenase (SDH) are frequently mutated in cancer. In this review, we provide an overview of the mitochondrial germline variants and mutations in cancer, with particular focus on those found in BC.

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“…On the one hand, several studies suggest that Complex I subunits are tumor suppressors (17–19). On the other hand, mutations in Complex I genes promote progression of prostate (20), thyroid (21, 22), breast (23), lung (24), renal (25, 26), colorectal (27), and head and neck tumors (28). Here, we will focus on recent advances in understanding the role of Complex I in tumorigenesis and highlight the specific participation of Complex I subunits in supporting cancer cell proliferation and metastasis.…”

Section: Introduction: the Anatomy Of Complex Imentioning

confidence: 99%

The Mitochondrial Complex(I)ty of Cancer

Urra

Muñoz

Lovy³

et al. 2017

Front. Oncol.

133

115

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Recent evidence highlights that the cancer cell energy requirements vary greatly from normal cells and that cancer cells exhibit different metabolic phenotypes with variable participation of both glycolysis and oxidative phosphorylation. NADH–ubiquinone oxidoreductase (Complex I) is the largest complex of the mitochondrial electron transport chain and contributes about 40% of the proton motive force required for mitochondrial ATP synthesis. In addition, Complex I plays an essential role in biosynthesis and redox control during proliferation, resistance to cell death, and metastasis of cancer cells. Although knowledge about the structure and assembly of Complex I is increasing, information about the role of Complex I subunits in tumorigenesis is scarce and contradictory. Several small molecule inhibitors of Complex I have been described as selective anticancer agents; however, pharmacologic and genetic interventions on Complex I have also shown pro-tumorigenic actions, involving different cellular signaling. Here, we discuss the role of Complex I in tumorigenesis, focusing on the specific participation of Complex I subunits in proliferation and metastasis of cancer cells.

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Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer

Cited by 20 publications

References 21 publications

High incidence of coding gene mutations in mitochondrial DNA in esophageal cancer

High incidence of coding gene mutations in mitochondrial DNA in esophageal cancer

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

The Mitochondrial Complex(I)ty of Cancer

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