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

Liu, Zong-Wen; Guo, Zhenjiang; Chu, Alan; Zhang, Yan; Liu, Bing; Guo, Xing; Chai, Tuanyao; Song, Rui; Hou, Ge; Yuan, Jinjin

doi:10.3892/mmr.2017.7663

Cited by 9 publications

(4 citation statements)

References 25 publications

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“…Reducing mTOR activity increases autophagic flux, reduces reactive oxygen species (ROS) and increases cellular replicative lifespan. Importantly, mTOR regulates mitochondrial function via different mechanisms, including the modulation of transcription and translation of important mitochondrial genes [46].…”

Section: The Progeria Cell and Energymentioning

confidence: 99%

Metabolic Dysfunction in Hutchinson–Gilford Progeria Syndrome

Kreienkamp

Gonzalo

2020

Cells

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Hutchinson–Gilford Progeria Syndrome (HGPS) is a segmental premature aging disease causing patient death by early teenage years from cardiovascular dysfunction. Although HGPS does not totally recapitulate normal aging, it does harbor many similarities to the normal aging process, with patients also developing cardiovascular disease, alopecia, bone and joint abnormalities, and adipose changes. It is unsurprising, then, that as physicians and scientists have searched for treatments for HGPS, they have targeted many pathways known to be involved in normal aging, including inflammation, DNA damage, epigenetic changes, and stem cell exhaustion. Although less studied at a mechanistic level, severe metabolic problems are observed in HGPS patients. Interestingly, new research in animal models of HGPS has demonstrated impressive lifespan improvements secondary to metabolic interventions. As such, further understanding metabolism, its contribution to HGPS, and its therapeutic potential has far-reaching ramifications for this disease still lacking a robust treatment strategy.

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Section: The Progeria Cell and Energymentioning

confidence: 99%

Metabolic Dysfunction in Hutchinson–Gilford Progeria Syndrome

Kreienkamp

Gonzalo

2020

Cells

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“…For example, Jiang et al (41) analyzed the nd1, nd4 and GaPdH levels in plasma and blood cells from 75 patients with thyroid cancer, which indicated that the ratio of nd1/nd4 in thyroid cancer was abnormally elevated. liu et al (42) found a total of 39 gene mutations in human esophageal cancer cells (EC9706, Te-1 and eca109). among them, the mutation frequency of the mitochondria encoded cytochrome B, nd5 and nd4 genes was the highest.…”

Section: Discussionmentioning

confidence: 99%

NADH dehydrogenase subunit 1/4/5 promotes survival of acute myeloid leukemia by mediating specific oxidative phosphorylation

et al. 2022

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acute myeloid leukemia (aMl) is a type of hematological malignancy caused by uncontrolled clonal proliferation of hematopoietic stem cells. The special energy metabolism mode of aMl relying on oxidative phosphorylation is different from the traditional 'Warburg effect'. However, its mechanism is not clear. in the present study, it was demonstrated that the mrna expression levels of nadH dehydrogenase subunit 1, 4 and 5 (nd1, nd4 and nd5) were upregulated in aMl samples from The cancer Genome atlas database using the limma package in the r programming language. reverse transcription-quantitative Pcr and eliSa were used to verify the upregulation of nd1, nd4 and nd5 in clinical samples. Pan-cancer analysis revealed that the expression of nd1 was upregulated only in aMl, nd2 was upregulated only in aMl and thymoma, and nd4 was upregulated only in aMl and kidney chromophobe. in the present study, it was demonstrated that silencing of nd1/4/5 could inhibit the proliferation of aMl cells in transplanted tumor of nude mice. additionally, it was found that oxidative phosphorylation and energy metabolism of aMl cells were decreased after silencing of nd1/4/5. in conclusion, the present study suggested that nd1/4/5 may be involved in the regulation of oxidative phosphorylation metabolism in aMl as a potential cancer-promoting factor.

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“…Regardless, MT- ND5 encodes a core subunit of Complex I, essential for electron transport from NADH to ubiquinone in the mitochondrial respiratory chain, so that variants in this gene and others related to this process may lead to impairment in OXPHOS and an increase of reactive oxygen species (ROS) generation, which can contribute to cancer proliferation and metastasis 36,37 . In fact, a high rate of mutations in MT-ND5 has been reported in esophageal cancer 38 .…”

Section: Discussionmentioning

confidence: 99%

Whole mitochondrial genome sequencing highlights mitochondrial impact in gastric cancer

Cavalcante

Marinho

Anaissi

et al. 2019

Sci Rep

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Mitochondria are organelles that perform major roles in cellular operation. Thus, alterations in mitochondrial genome (mtGenome) may lead to mitochondrial dysfunction and cellular deregulation, influencing carcinogenesis. Gastric cancer (GC) is one of the most incident and mortal types of cancer in Brazil, particularly in the Amazon region. Here, we sequenced and compared the whole mtGenome extracted from FFPE tissue samples of GC patients (tumor and internal control – IC) and cancer-free individuals (external control – EC) from this region. We found 3-fold more variants and up to 9-fold more heteroplasmic regions in tumor when compared to paired IC samples. Moreover, tumor presented more heteroplasmic variants when compared to EC, while IC and EC showed no significant difference when compared to each other. Tumor also presented substantially more variants in the following regions: MT-RNR1, MT-ND5, MT-ND4, MT-ND2, MT-DLOOP1 and MT-CO1. In addition, our haplogroup results indicate an association of Native American ancestry (particularly haplogroup C) to gastric cancer development. To the best of our knowledge, this is the first study to sequence the whole mtGenome from FFPE samples and to apply mtGenome analysis in association to GC in Brazil.

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

Cited by 9 publications

References 25 publications

Metabolic Dysfunction in Hutchinson–Gilford Progeria Syndrome

Metabolic Dysfunction in Hutchinson–Gilford Progeria Syndrome

NADH dehydrogenase subunit 1/4/5 promotes survival of acute myeloid leukemia by mediating specific oxidative phosphorylation

Whole mitochondrial genome sequencing highlights mitochondrial impact in gastric cancer

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