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

Yusoff, Abdul Aziz Mohamed; Abdullah, Wan Salihah Wan; Khair, Siti Zulaikha Nashwa Mohd; Radzak, Siti Muslihah Abd

doi:10.4081/oncol.2019.409

Cited by 31 publications

(28 citation statements)

References 118 publications

(146 reference statements)

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“…The mtDNA 4977 deletion has been considered as a pathogenic mutation in human as the loss of the tRNA genes and coding regions could cause a failure of ATP production and mitochondrial dysfunctions. Increased OS has been reported to trigger the accumulation of deletions in mtDNA [21,22]. Consistent with evidence linking OS with mitochondrial destruction [7,23], our study found that mtDNA 4977 DR was a risk factor for PCOS independent of metabolic parameters.…”

Section: Discussionsupporting

confidence: 90%

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Mitochondrial DNA 4977 bp Deletion in Peripheral Blood is Associated with Polycystic Ovary Syndrome.

Shi

et al. 2020

Preprint

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Background PCOS is a common worldwide endocrine disorder. We aimed to examine the associations of two mtDNA biomarkers in the peripheral blood, mtDNA CN and mtDNA4977 DR, with PCOS in a clinical setting.Methods We performed a study involving 263 women with PCOS and 326 age-matched controls between January 2016 and December 2018. The mtDNA CN and mtDNA4977 DR were measured via a multiplex probe-based qPCR. The associations of mtDNA CN and mtDNA DR with the risk of PCOS were estimated by logistic regression.Results In the analysis between mtDNA biomarkers and PCOS, the mtDNA CN (P = 0.003) and mtDNA4977 DR (P < 0.001) levels in PCOS patients were significantly higher than those in the controls. After adjusting for BMI, LH/FSH, and T, only higher mtDNA4977 DR was associated with PCOS (odds ratio 1.053, 95% confidence interval 1.024 to 1.083, P < 0.001). The linear dose-response trends of mtDNA4977 DR were also supported by the quartile analyses.Conclusions Multivariable models suggest that mtDNA4977 DR levels are strongly associated with PCOS and represent an independent risk factor for PCOS. Future investigation of the utility of mtDNA as a biomarker for PCOS is warranted.

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Section: Discussionsupporting

confidence: 90%

“…The mtDNA 4977 deletion, involving huge destruction of almost one-third of the length of mtDNA, is the most common large deletion in the mitochondrial genome [21]. The deleted region contains 5 tRNA genes and 7 genes encoding 4 complex I subunits, 1 complex IV subunit, and 2 complex V subunits.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA 4977 bp Deletion in Peripheral Blood is Associated with Polycystic Ovary Syndrome.

Shi

et al. 2020

Preprint

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“…Furthermore, mtDNA 4977 was discovered to vary between 0% and 100% in a variety of human cancers. 20 …”

Section: Discussionmentioning

confidence: 99%

“…mtDNA 4977 eliminates all five tRNA genes (tRNA Gly , tRNA Arg , tRNA His , tRNA Ser , and tRNA Leu ) and seven genes encoding four Complex I subunits (ND3, ND4, ND4L, partial ND5), one Complex IV subunit (COX III), and two Complex V subunits (ATP6 and partial ATP8), that are vital for sustaining a normal mitochondrial OXPHOS function. 20 …”

Section: Introductionmentioning

confidence: 99%

Prevalence of mitochondrial DNA common deletion in patients with gliomas and meningiomas: A first report from a Malaysian study group

Yusoff

Khair

Radzak

et al. 2020

Journal of the Chinese Medical Association

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Background: The 4977-bp common deletion (mtDNA 4977 ) is a well-established mitochondrial genome alteration that has been described in various types of human cancers. However, to date, no studies on mtDNA 4977 in brain tumors have been reported. The present study aimed to determine mtDNA 4977 prevalence in common brain tumors, specifically, low- and high-grade gliomas (LGGs and HGGs), and meningiomas in Malaysian cases. Its correlation with clinicopathological parameters was also evaluated. Methods: A total of 50 patients with pathologically confirmed brain tumors (13 LGGs, 20 HGGs, and 17 meningiomas) were enrolled in this study. mtDNA 4977 was detected by using polymerase chain reaction (PCR) technique and later confirmed via Sanger DNA sequencing. Results: Overall, mtDNA 4977 was observed in 16 (32%) patients and it was significantly correlated with the type of tumor group and sex, being more common in the HGG group and in male patients. Conclusion: The prevalence of mtDNA 4977 in Malaysian glioma and meningioma cases has been described for the first time and it was, indeed, comparable with previously published studies. This study provides initial insights into mtDNA 4977 in brain tumor and these findings can serve as new data for the global mitochondrial DNA mutations database.

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“…Mitochondrial DNA (mtDNA) is a circular molecule of 16569 bp, coding for two 2 ribosomal RNAs (12S and 16S), 22 transfer RNAs and 13 essential protein subunits of the oxidative phosphorylation system (OXPHOS) [14]. It is well known that (mtDNA) has a mutation rate several times higher than nuclear DNA [15], due to its limited repair mechanisms, lack of protective histones and its close proximity to the electron transport chain, which continuously generates free radicals [16]; in addition, mtDNA is organized in an economic pattern with its genes lacking introns [17]. It was in 1956, when Otto Warburg observed that cancers ferment glucose in the presence of oxygen, proposing that abnormalities in mitochondrial respiration may be responsible for cancer production [16, 18, and 19].…”

Section: Introductionmentioning

confidence: 99%

Potential Association of Mitochondrial Haplogroups and A8860G Mutation with Breast Cancer Risk

Hnm

Abdulkarim

2021

Preprint

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The last decade has witnessed great progresses regarding the molecular basis of breast cancer with discovery of different nuclear susceptibility genes; in addition investigations and researches regarding mitochondrial DNA (mtDNA) mutations in breast cancer have been started. Mitochondrial haplogroup determinants (single nucleotide polymorphism SNP) and somatic mitochondrial mutations have recently been studied as possible risk factors for carcinogenic processes in different tissues, hence in order to identify breast cancer related SNPs and haplogroups among the population of Sulaimaniyah city/Iraq, the entire mitochondrial genome of 20-breast cancer samples and comparable controls were sequenced. Haplogrep 2.0 was used for haplogroup identification; Chi-square and Fishers exact test were applied to assess relational significance. HV haplogroup in the cancer samples appeared to be a risk factor for breast cancer compared to the most common H haplogroup in control samples with a p-values of 0.002 and 0.006 respectively and an Odd Ratio (OR) = 28.00. Besides, SNP (A8860G) was also identified as a risk factor for breast cancer as compared to other randomly selected SNPs (A750G, A1438G and C7028T) with p values <0.05 and OR >1.

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

Cited by 31 publications

References 118 publications

Mitochondrial DNA 4977 bp Deletion in Peripheral Blood is Associated with Polycystic Ovary Syndrome.

Mitochondrial DNA 4977 bp Deletion in Peripheral Blood is Associated with Polycystic Ovary Syndrome.

Prevalence of mitochondrial DNA common deletion in patients with gliomas and meningiomas: A first report from a Malaysian study group

Potential Association of Mitochondrial Haplogroups and A8860G Mutation with Breast Cancer Risk

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