Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma

Tayae, Eman; Hashad, Mohamed M.; El-Gohary, Iman E

doi:10.5301/ijbm.5000268

Cited by 12 publications

(6 citation statements)

References 40 publications

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“…This study is the second showing free structurally intact mitochondria in plasma, and the first indicating its role as stable molecule in RCC. Previously, Elsayed et al [ 52 ] suggested that an increased peripheral blood mtDNA copy number is associated with increased risk of RCC. Therefore, RCC might be considered in the range of potential tumors in patients with an elevated blood mtDNA copy number.…”

Section: Discussionmentioning

confidence: 99%

Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness

Arance

Ramírez

Rubio-Roldán

et al. 2021

Cancers

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Here, the role of non-invasive biomarkers in liquid biopsy was evaluated, mainly in exosomes and mitochondrial DNA (mtDNA) as promising, novel, and stable biomarkers for renal cell carcinoma (RCC). A total of 140 fractions (named from B to F) obtained by ultracentrifugations of whole blood samples from 28 individuals (13 patients and 15 controls) were included. Nanoparticle Tracking Analysis (NTA) was conducted to characterized exosomal fraction. Subsequently, an analysis of digital PCR (dPCR) using the QuantStudio™ 3D Digital PCR platform was performed and the quantification of mtDNA copy number by QuantStudioTM 12K Flex Real-Time PCR System (qPCR) was developed. Moreover, Next Generation Sequencing (NGS) analyses were included using MiSeq system (Illumina, San Diego, CA, USA). An F fraction, which contains all exosome data and all mitochondrial markers, was identified in dPCR and qPCR with statistically significant power (adjusted p values ≤ 0.03) when comparing cases and controls. Moreover, present analysis in mtDNA showed a relevant significance in RCC aggressiveness. To sum up, this is the first time a relation between exosomal mtDNA markers and clinical management of RCC is analyzed. We suggest a promising strategy for future liquid biopsy RCC analysis, although more analysis should be performed prior to application in routine clinical practice.

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Section: Discussionmentioning

confidence: 99%

Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness

Arance

Ramírez

Rubio-Roldán

et al. 2021

Cancers

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“…A study by Lin et al revealed that lower mtDNA-CN with the addition of reduced mitochondrial enzyme activity may be involved in a drug-resistance phenotype and the progression of renal cell cancer ( 162 ). However, mtDNA-CN was revealed to be higher in peripheral blood samples of renal cell carcinoma patients ( 163 , 164 ). These studies also revealed a significant association between the increased levels of mtDNA-CN and the increased risk of renal cell cancer ( 163 , 164 ).…”

Section: Involvement Of Mtdna-cn In Human Cancersmentioning

confidence: 94%

“…However, mtDNA-CN was revealed to be higher in peripheral blood samples of renal cell carcinoma patients ( 163 , 164 ). These studies also revealed a significant association between the increased levels of mtDNA-CN and the increased risk of renal cell cancer ( 163 , 164 ).…”

Section: Involvement Of Mtdna-cn In Human Cancersmentioning

confidence: 94%

Insights regarding mitochondrial DNA copy number alterations in human cancer (Review)

et al. 2022

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Mitochondria are the critical organelles involved in various cellular functions. Mitochondrial biogenesis is activated by multiple cellular mechanisms which require a synchronous regulation between mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). The mitochondrial DNA copy number (mtDNA-CN) is a proxy indicator for mitochondrial activity, and its alteration reflects mitochondrial biogenesis and function. Despite the precise mechanisms that modulate the amount and composition of mtDNA, which have not been fully elucidated, mtDNA-CN is known to influence numerous cellular pathways that are associated with cancer and as well as multiple other diseases. In addition, the utility of current technology in measuring mtDNA-CN contributes to its extensive assessment of diverse traits and tumorigenesis. The present review provides an overview of mtDNA-CN variations across human cancers and an extensive summary of the existing knowledge on the regulation and machinery of mtDNA-CN. The current information on the advanced methods used for mtDNA-CN assessment is also presented.

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“…The authors discovered that median mtDNA copy number was significantly higher in patients with renal cell carcinoma than healthy patients. As a predictor of renal cell carcinoma, mtDNA copy number had 86% sensitivity, 80% specificity, and 80.3% predictive value compared with healthy controls (23). On the other hand, Bao and colleagues examined the peripheral blood leukocytes of 250 hepatocellular carcinoma patients and found that those with a lower mtDNA copy number and longer leukocyte telomere length had a reduced overall time of survival (24).…”

Section: Copy Number Variationmentioning

confidence: 99%

“…In particular, mtDNA copy number may be a predictor of cancer in renal cell carcinoma. Elsayed and colleagues utilized quantitative PCR to measure the peripheral blood of 57 Egyptian patients with newly diagnosed early-stage renal cell carcinoma (23). The authors discovered that median mtDNA copy number was significantly higher in patients with renal cell carcinoma than healthy patients.…”

Section: Copy Number Variationmentioning

confidence: 99%

Understanding Mitochondrial Polymorphisms in Cancer

Bussard

Siracusa

2017

Cancer Research

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Alterations in mitochondrial DNA (mtDNA) were once thought to be predominantly innocuous to cell growth. Recent evidence suggests that mtDNA undergo naturally occurring alterations, including mutations and polymorphisms, which profoundly affect the cells in which they appear and contribute to a variety of diseases, including cardiovascular disease, diabetes, and cancer. Furthermore, interplay between mtDNA and nuclear DNA has been found in cancer cells, necessitating consideration of these complex interactions for future studies of cancer mutations and polymorphisms. In this issue of Cancer Research, Vivian and colleagues utilize a unique mouse model, called Mitochondrial Nuclear eXchange mice, that contain the nuclear DNA from one inbred mouse strain, and the mtDNA from a different inbred mouse strain to examine the genomewide nuclear DNA methylation and gene expression patterns of brain tissue. Results demonstrated there were alterations in nuclear DNA expression and DNA methylation driven by mtDNA. These alterations may impact disease pathogenesis. In light of these results, in this review, we highlight alterations in mtDNA, with a specific focus on polymorphisms associated with cancer susceptibility and/or prognosis, mtDNA as cancer biomarkers, and considerations for investigating the role of mtDNA in cancer progression for future studies.

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Mitochondrial DNA Copy Number Variation as a Potential Predictor of Renal Cell Carcinoma

Abstract: Our results showed that increased peripheral blood mtDNA copy number was associated with increased risk of RCC. Therefore, RCC might be considered as part of a range of potential tumors in cases with elevated blood mtDNA copy number.

Cited by 12 publications

References 40 publications

Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness

Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness

Insights regarding mitochondrial DNA copy number alterations in human cancer (Review)

Understanding Mitochondrial Polymorphisms in Cancer

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