Mitochondrial common deletion is elevated in blood of breast cancer patients mediated by oxidative stress

Nie, Hezhongrong; Chen, Guorong; He, Jing; Zhang, Fengjiao; Li, Ming; Wang, Qiufeng; Zhou, Huaibin; Lyu, Jianxin; Bai, Yidong

doi:10.1016/j.mito.2015.12.001

Cited by 22 publications

(11 citation statements)

References 69 publications

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“…carried out a comprehensive experiment to detect the mtDNA 4977 as well as mtDNA copy number alteration in breast carcinoma and benign breast disease patients. 85 The authors revealed that the mtDNA 4977 in the blood of breast carcinoma patients was significantly higher (51/107, 48%) than that of benign breast disease patients and healthy controls. This deletion has also been found to be correlated with a lower mtDNA content and higher MnSOD level and oxidative damage in both group patients.…”

Section: Breast Cancermentioning

confidence: 97%

A comprehensive overview of mitochondrial DNA 4977-bp deletion in cancer studies

Yusoff¹,

Abdullah²,

Khair³

et al. 2019

Oncol Rev

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Mitochondria are cellular machines essential for energy production. The biogenesis of mitochondria is a highly complex and it depends on the coordination of the nuclear and mitochondrial genome. Mitochondrial DNA (mtDNA) mutations and deletions are suspected to be associated with carcinogenesis. The most described mtDNA deletion in various human cancers is called the 4977-bp common deletion (mDNA4977) and it has been explored since two decades. In spite of that, its implication in carcinogenesis still unknown and its predictive and prognostic impact remains controversial. This review article provides an overview of some of the cellular and molecular mechanisms underlying mDNA4977 formation and a detailed summary about mDNA4977 reported in various types of cancers. The current knowledges of mDNA4977 as a prognostic and predictive marker are also discussed.

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Section: Breast Cancermentioning

confidence: 97%

A comprehensive overview of mitochondrial DNA 4977-bp deletion in cancer studies

Yusoff¹,

Abdullah²,

Khair³

et al. 2019

Oncol Rev

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“…Damage to the mitochondrial genome also involves a 4977 base pair deletion, known as the “Common Deletion”, which occurs with high frequency in patients with mitochondrial diseases, and also in aged post-mitotic and quiescent cells including the RPE and neural retina ( Fig. 1 ; Barreau et al, 1996 ; Karunadharma et al, 2010 ; Nie et al, 2016 ; Huang et al, 2018 ). These results were confirmed in subsequent research, showing a biphasic increase in the ratio of this mutation in the retina.…”

Section: Rpe Mitochondria Damage and Dysfunction During Normal Agingmentioning

confidence: 99%

Mechanisms of mitochondrial dysfunction and their impact on age-related macular degeneration

Kaarniranta

Uusitalo

Błasiak

et al. 2020

Progress in Retinal and Eye Research

300

284

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Oxidative stress-induced damage to the retinal pigment epithelium (RPE) is considered to be a key factor in age-related macular degeneration (AMD) pathology. RPE cells are constantly exposed to oxidative stress that may lead to the accumulation of damaged cellular proteins, lipids, nucleic acids, and cellular organelles, including mitochondria. The ubiquitin-proteasome and the lysosomal/autophagy pathways are the two major proteolytic systems to remove damaged proteins and organelles. There is increasing evidence that proteostasis is disturbed in RPE as evidenced by lysosomal lipofuscin and extracellular drusen accumulation in AMD. Nuclear factor-erythroid 2-related factor-2 (NFE2L2) and peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α) are master transcription factors in the regulation of antioxidant enzymes, clearance systems, and biogenesis of mitochondria. The precise cause of RPE degeneration and the onset and progression of AMD are not fully understood. However, mitochondria dysfunction, increased reactive oxygen species (ROS) production, and mitochondrial DNA (mtDNA) damage are observed together with increased protein aggregation and inflammation in AMD. In contrast, functional mitochondria prevent RPE cells damage and suppress inflammation. Here, we will discuss the role of mitochondria in RPE degeneration and AMD pathology focused on mtDNA damage and repair, autophagy/mitophagy signaling, and regulation of inflammation. Mitochondria are putative therapeutic targets to prevent or treat AMD.

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“…A recent sequencing study analyzed somatic mtDNA mutations in 1675 tumors, revealing 1907 mtDNA mutations [73]. The common 4977-bp mtDNA deletion has also been observed with a relatively high frequency in blood samples from breast cancer patients, strengthening the link between mtDNA mutation and cancer [74].…”

Section: Mitochondrial Dna In Common Diseasesmentioning

confidence: 99%

Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations

Slone

Lin

et al. 2019

Cells

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The mitochondrion is the only organelle in the human cell, besides the nucleus, with its own DNA (mtDNA). Since the mitochondrion is critical to the energy metabolism of the eukaryotic cell, it should be unsurprising, then, that a primary driver of cellular aging and related diseases is mtDNA instability over the life of an individual. The mutation rate of mammalian mtDNA is significantly higher than the mutation rate observed for nuclear DNA, due to the poor fidelity of DNA polymerase and the ROS-saturated environment present within the mitochondrion. In this review, we will discuss the current literature showing that mitochondrial dysfunction can contribute to age-related common diseases such as cancer, diabetes, and other commonly occurring diseases. We will then turn our attention to the likely role that mtDNA mutation plays in aging and senescence. Finally, we will use this context to develop a mathematical formula for estimating for the accumulation of somatic mtDNA mutations with age. This resulting model shows that almost 90% of non-proliferating cells would be expected to have at least 100 mutations per cell by the age of 70, and almost no cells would have fewer than 10 mutations, suggesting that mtDNA mutations may contribute significantly to many adult onset diseases.

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Mitochondrial common deletion is elevated in blood of breast cancer patients mediated by oxidative stress

Cited by 22 publications

References 69 publications

A comprehensive overview of mitochondrial DNA 4977-bp deletion in cancer studies

A comprehensive overview of mitochondrial DNA 4977-bp deletion in cancer studies

Mechanisms of mitochondrial dysfunction and their impact on age-related macular degeneration

Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations

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