Mitochondrial NADH-dehydrogenase polymorphisms as sporadic breast cancer risk factor

Petros,

doi:10.3892/or_00000666

Cited by 4 publications

(5 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Given the results of studies on other diseases associated with mtDNA variations, according to Mao et al, 33 variations in the MT‐ATP6 and MT‐CYB genes might play a role in the unexpected fertilization disorder. The A8860G mutation in the ATPase‐6 gene was detected in 79%−91.66% in breast tumors, 75%−100% in other types of cancers 32,33 and 92.85%−100% in neurodegenerative diseases 34,35 . In the present study, 32 COVID‐19 (+) patients had A8860G missense mutation in the ATPase‐6 gene.…”

Section: Discussionsupporting

confidence: 46%

See 1 more Smart Citation

Analysis of mitochondrial DNA cytochrome‐b (CYB) and ATPase‐6 gene mutations in COVID‐19 patients

Dirican

Savrun

Aydın

et al. 2022

Journal of Medical Virology

View full text Add to dashboard Cite

Coronavirus disease of 2019 (COVID‐19) is a pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2). Mutations of mitochondrial DNA (mtDNA) are becoming increasingly common in various diseases. This study aims to investigate mutations in the cytochrome‐b (CYB) and adenosine triphosphatase‐6 (ATPase‐6) genes of mtDNA in COVID‐19 patients. The association between mtDNA mutations and clinical outcomes is investigated here. In the present study, mutations of the mtDNA genes CYB and ATPase‐6 were investigated in COVID‐19 (+) ( n = 65) and COVID‐19 (−) patients ( n = 65). First, we isolated DNA from the blood samples. After the PCR analyses, the mutations were defined using Sanger DNA sequencing. The age, creatinine, ferritin, and CRP levels of the COVID 19 (+) patients were higher than those of the COVID‐19 (−) patients ( p = 0.0036, p = 0.0383, p = 0.0305, p < 0.0001, respectively). We also found 16 different mutations in the CYB gene and 14 different mutations in the ATPase‐6 gene. The incidences of CYB gene mutations A15326G, T15454C, and C15452A were higher in COVID‐19 (+) patients than COVID‐19 (−) patients; p < 0.0001: OR (95% CI): 4.966 (2.215−10.89), p = 0.0226, and p = 0.0226, respectively. In contrast, the incidences of A8860G and G9055A ATPase‐6 gene mutations were higher in COVID‐19 (+) patients than COVID‐19 (−) patients; p < 0.0001: OR (95%CI): 5.333 (2.359−12.16) and p = 0.0121 respectively. Yet, no significant relationship was found between mtDNA mutations and patients' age and biochemical parameters ( p > 0.05). The results showed that the frequency of mtDNA mutations in COVID‐19 patients is quite high and it is important to investigate the association of these mutations with other genetic mechanisms in larger patient populations.

show abstract

Section: Discussionsupporting

confidence: 46%

“…The A8860G mutation in the ATPase-6 gene was detected in 79%−91.66% in breast tumors, 75%−100% in other types of cancers 32,33 and 92.85%−100% in neurodegenerative diseases. 34,35 In the present study, 32 COVID-19 (+) patients had A8860G missense mutation in the ATPase-6 gene.…”

Section: Discussionmentioning

confidence: 50%

Analysis of mitochondrial DNA cytochrome‐b (CYB) and ATPase‐6 gene mutations in COVID‐19 patients

Dirican

Savrun

Aydın

et al. 2022

Journal of Medical Virology

View full text Add to dashboard Cite

show abstract

“…We further annotated each variant for its associated disease phenotypes using MITOMAP 46 and observed that 10398A>G was associated with the largest number of distinct phenotypes of any reported MT variant (n=10). 10398A>G has been linked with AD 17 , Parkinson's disease [18][19][20][21][22][23][24] , breast cancer [25][26][27][28][29][30][31][32][33][34] , type 2 diabetes and many other diseases and conditions [35][36][37][38][39] .…”

Section: A>g Is Significantly Associated With Mitochondrial Heteroplasmymentioning

confidence: 99%

“…10398A>G corresponds to the Thr114Ala missense mutation of the MT-ND3 gene coded by the MT, and is a common variant found within most populations with a reported allele frequency of 41.8% from the gnomAD database v3.1.1 16 . The 10398A>G allele has been collectively associated with an expansive set of phenotypically diverse diseases including AD 17 , Parkinson's disease [18][19][20][21][22][23][24] , breast cancer [25][26][27][28][29][30][31][32][33][34] , gastric cancer, type 2 diabetes and several other human diseases and phenotypes [35][36][37][38][39] .…”

Section: Introductionmentioning

confidence: 99%

Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus MT:10398A>G

Smullen

Olson

Murray

et al. 2023

Preprint

View full text Add to dashboard Cite

Mitochondrial (MT) dysfunction has been associated with several neurodegenerative diseases including Alzheimers disease (AD). While MT-copy number differences have been implicated in AD, the effect of MT heteroplasmy on AD has not been well characterized. Here, we analyzed over 1,800 whole genome sequencing data from four AD cohorts in seven different tissue types to determine the extent of MT heteroplasmy present. While MT-heteroplasmy was present throughout the entire MT genome for blood samples, we detected MT-heteroplasmy only within the MT control region for brain samples. We observed that an MT variant 10398A>G (rs2853826) was significantly associated with overall MT-heteroplasmy in brain tissue while also being linked with the largest number of distinct disease phenotypes of all annotated MT variants in MitoMap. Using gene-expression data from our brain samples, our modeling discovered several gene networks involved in mitochondrial respiratory chain and Complex I function associated with 10398A>G. The variant was also found to be an expression quantitative trait loci (eQTL) for the gene MT-ND3. We further characterized the effect of 10398A>G by phenotyping a population of lymphoblastoid cell-lines (LCLs) with and without the variant allele. Examination of RNA sequence data from these LCLs reveal that 10398A>G was an eQTL for MT-ND4. We also observed in LCLs that 10398A>G was significantly associated with overall MT-heteroplasmy within the MT control region, confirming the initial findings observed in post- mortem brain tissue. These results provide novel evidence linking MT SNPs with MT heteroplasmy and open novel avenues for the investigation of pathomechanisms that are driven by this pleiotropic disease associated loci.

show abstract

“… 1 The individual risk of breast cancer manifestation is contingent on a myriad of factors, encompassing age, gender, the presence of benign breast tumors, timing of menopause, hormone therapy, chest radiation exposure, combined use of estrogen and progesterone, alcohol consumption, diethylstilbestrol ingestion, genetic predisposition, postmenopausal obesity, age at first pregnancy exceeding 30 years, breastfeeding practices, and assorted environmental influences. 2 3 4 Breast cancer pathogenesis is intricately linked to genetic determinants, involving disruptions in gene expression levels, epigenetic alterations, and polymorphisms in DNA sequences. 5 Amidst the multifaceted array of environmental factors influencing cancer progression, vitamin D emerges as a significant modulator.…”

Section: Introductionmentioning

confidence: 99%

The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk

Mozaffarizadeh,

Mokarian,

Salehi

et al. 2024

Glob Med Genet

View full text Add to dashboard Cite

Background In addition to its multifaceted physiological functions, vitamin D is recognized for its protective role against cancer. To manifest its effects, vitamin D engages with the vitamin D receptor (VDR) gene responsible for its encoding. Investigations have unveiled that polymorphisms within the VDR gene exert influence over the expression and/or functionality of the VDR protein. Notably, certain VDR gene polymorphisms have emerged as particularly pertinent in the context of tumorigenesis, including Fok1 (rs2228570), Bsm1 (rs1544410), Taq1 (rs771236), and Apa1 (rs7975232). This study aims to scrutinize the correlation between the Bsm1 and Apa1 polymorphisms and the susceptibility to breast cancer development. Materials and Methods In this study, 50 patients suffering from breast cancer with less than 6 months breast cancer diagnosis and 50 healthy control individuals have been chosen. Restriction fragment length polymorphism polymerase chain reaction was used to determine the genotype of polymorphisms. Results The results of the statistical analysis showed that among the studied polymorphisms, there was no correlation with the development of breast cancer. Conclusion Studies on various cancers have produced inconsistent results regarding vitamin D's role in the development and progression of cancer. Therefore, further research is necessary to determine vitamin D's role in cancer development and progression.

show abstract

Mitochondrial NADH-dehydrogenase polymorphisms as sporadic breast cancer risk factor

Cited by 4 publications

References 23 publications

Analysis of mitochondrial DNA cytochrome‐b (CYB) and ATPase‐6 gene mutations in COVID‐19 patients

Analysis of mitochondrial DNA cytochrome‐b (CYB) and ATPase‐6 gene mutations in COVID‐19 patients

Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus MT:10398A>G

The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk

Contact Info

Product

Resources

About