mtDNA mutations in invasive cervix tumors: A retrospective analysis

Allalunis‐Turner, Joan; Ma, Ivy; Hanson, John Mark; Pearcey, R.

doi:10.1016/j.canlet.2005.11.035

Cited by 14 publications

(5 citation statements)

References 44 publications

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“…A recent study has demonstrated conference of metastatic potential by ND1 complex mutation through ROS generation in a tumor specific fashion [37]. This parallels the finding of worsening prognosis with increased mitochondrial mutation cervical cancer [38]. While we did not detect an association between mitochondrial mutation and the clinical behavior of ACC, larger studies may need to be performed to adequately address this question.…”

Section: Discussionsupporting

confidence: 73%

Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

et al. 2009

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BackgroundThe MitoChip v2.0 resequencing array is an array-based technique allowing for accurate and complete sequencing of the mitochondrial genome. No studies have investigated mitochondrial mutation in salivary gland adenoid cystic carcinomas.MethodologyThe entire mitochondrial genome of 22 salivary gland adenoid cystic carcinomas (ACC) of salivary glands and matched leukocyte DNA was sequenced to determine the frequency and distribution of mitochondrial mutations in ACC tumors.Principal FindingsSeventeen of 22 ACCs (77%) carried mitochondrial mutations, ranging in number from 1 to 37 mutations. A disproportionate number of mutations occurred in the D-loop. Twelve of 17 tumors (70.6%) carried mutations resulting in amino acid changes of translated proteins. Nine of 17 tumors (52.9%) with a mutation carried an amino acid changing mutation in the nicotinamide adenine dinucleotide dehydrogenase (NADH) complex.Conclusions/SignificanceMitochondrial mutation is frequent in salivary ACCs. The high incidence of amino acid changing mutations implicates alterations in aerobic respiration in ACC carcinogenesis. D-loop mutations are of unclear significance, but may be associated with alterations in transcription or replication.

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Section: Discussionsupporting

confidence: 73%

Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

et al. 2009

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“…Cervical tumours have been demonstrated to contain mtDNA mutations, often C-to-T or G-to-A 3 , 13 , 41 . It was believed that mtDNA mutations by ROS resulted from DNA oxidization, but we have demonstrated that mtDNA contains copies almost entirely without mutations other than C-to-T/G-to-A (Figs 1– 4 , and Supplementary Figs S1 and S8 ).…”

Section: Discussionmentioning

confidence: 99%

Keratinocyte differentiation induces APOBEC3A, 3B, and mitochondrial DNA hypermutation

Wakae

Nishiyama

Kondo

et al. 2018

Sci Rep

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Mitochondrial DNA (mtDNA) mutations are found in many types of cancers and suspected to be involved in carcinogenesis, although the mechanism has not been elucidated. In this study, we report that consecutive C-to-T mutations (hypermutations), a unique feature of mutations induced by APOBECs, are found in mtDNA from cervical dysplasia and oropharyngeal cancers. In vitro, we found that APOBEC3A (A3A) and 3B (A3B) expression, as well as mtDNA hypermutation, were induced in a cervical dysplastic cell line W12 when cultured in a differentiating condition. The ectopic expression of A3A or A3B was sufficient to hypermutate mtDNA. Fractionation of W12 cell lysates and immunocytochemical analysis revealed that A3A and A3B could be contained in mitochondrion. These results suggest that mtDNA hypermutation is induced upon keratinocyte differentiation, and shed light on its molecular mechanism, which involves A3s. The possible involvement of mtDNA hypermutations in carcinogenesis is also discussed.

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“…In fact, complex I ND subunits genes are found frequently mutated on mtDNA, affecting the OXPHOS respiratory chain. Allalunis‐Turner et al (2006) found several mutations on Complex I subunits genes encoded by mtDNA on cervix tumor samples, mostly on ND1, ND2, ND3, and ND5 genes. By a retrospective analysis, they demonstrated that a higher number of concomitant nucleotide substitutions was associated with worse probability of survival and lower 10‐year survival in cervical cancer patients (Allalunis‐Turner et al, 2006).…”

Section: Mtdna Alterations and Cervical Cancermentioning

confidence: 99%

“…Allalunis‐Turner et al (2006) found several mutations on Complex I subunits genes encoded by mtDNA on cervix tumor samples, mostly on ND1, ND2, ND3, and ND5 genes. By a retrospective analysis, they demonstrated that a higher number of concomitant nucleotide substitutions was associated with worse probability of survival and lower 10‐year survival in cervical cancer patients (Allalunis‐Turner et al, 2006). Furthermore, analyses of variations on mtDNA‐encoded ND1 subunit showed a higher rate of novel and established mtND1 mutations in high‐grade squamous intraepitelial lesion (HSIL) and cervical cancer cases when compared to LSIL.…”

Section: Mtdna Alterations and Cervical Cancermentioning

confidence: 99%

Qualitative and quantitative changes in mitochondrial DNA associated with cervical cancer: A comprehensive review

Pereira,

Silva,

Lima

et al. 2024

Environ and Mol Mutagen

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Cervical cancer is the fourth most commonly diagnosed cancer in women and is considered a preventable disease, as vaccination and screening programs effectively reduce its incidence and mortality rates. Disease physiopathology and malignant cell transformation is a complex process, but it is widely known that high‐risk HPV (hrHPV) infection is a necessary risk factor for cancer development. Mitochondria, cell organelles with important bioenergetic and biosynthetic functions, are important for cell energy production, cell growth, and apoptosis. Mitochondrial DNA is a structure that is particularly susceptible to quantitative (mtDNA copy number variation) and qualitative (sequence variations) alterations that are associated with various types of cancer. Novel biomarkers with diagnostic and prognostic value in cervical cancer can be evaluated to provide higher specificity and complement hrHPV molecular testing, which is the most recommended method for primary screening. In accordance with this, this review aimed to assess mitochondrial alterations associated with cervical cancer in clinical cervicovaginal samples, in order to unravel their possible role as specific diagnostic and prognostic biomarkers for cervical malignancy, and also to guide the understanding of their involvement in carcinogenesis, HPV infection, and disease progression.

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mtDNA mutations in invasive cervix tumors: A retrospective analysis

Cited by 14 publications

References 44 publications

Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

Keratinocyte differentiation induces APOBEC3A, 3B, and mitochondrial DNA hypermutation

Qualitative and quantitative changes in mitochondrial DNA associated with cervical cancer: A comprehensive review

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