Mitochondrial DNA mutations in human neoplasia

Czarnecka, Anna M.; Golik, Paweł; Bartnik, Ewa

doi:10.1007/bf03194602

Cited by 84 publications

(84 citation statements)

References 67 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Furthermore, we and others have shown that mtDNA deletions can be induced in cultured human skin cells by sublethal repetitive doses of UVA (Berneburg et al, 1999;Krishnan et al, 2004). In agreement with observations of mtDNA damage in other tumours (Birch-Machin, 2006;Czarnecka et al, 2006;Parr et al, 2006) we have previously identified somatic mtDNA changes in human skin as a result of the first detailed study of mtDNA damage in NMSC (Durham et al, 2002). Importantly, as a result of this study, we identified a 3895 bp mtDNA deletion which occurred more frequently in usually sun-exposed skin as opposed to occasionally sun-exposed skin Krishnan et al, 2004).…”

supporting

confidence: 87%

Real-time PCR analysis of a 3895 bp mitochondrial DNA deletion in nonmelanoma skin cancer and its use as a quantitative marker for sunlight exposure in human skin

Harbottle

Birch‐Machin

2006

Br J Cancer

View full text Add to dashboard Cite

Previous findings from our own laboratory have shown that the frequency of occurrence (i.e. the simple presence or absence) of the 3895 bp mitochondrial DNA deletion is increased with increasing sun exposure. The present study has significantly extended this work by developing, validating and then using a quantitative real-time PCR assay to investigate for the first time the actual level (as opposed to the frequency of occurrence) of the 3895 bp deletion in human skin from different sun-exposed body sites and tumours from nonmelanoma skin cancer patients. We investigated the 3895 bp deletion in 104 age-matched split human skin samples taken from various sun-exposed sites defined as usually exposed (n ¼ 60) and occasionally exposed (n ¼ 44) when outdoors. The results clearly show an increased level of the 3895 bp deletion with increasing sun exposure. Specifically, there was a significantly higher level of the deletion in the usually sun-exposed compared to the occasionally sun-exposed skin (P ¼ 0.0009 for dermis, P ¼ 0.008 for epidermis; two-tailed t-test). Our study has also extended previous findings by showing that the level of the 3895 bp deletion is significantly higher in the dermis compared with the epidermis both in the occasionally sun-exposed samples (P ¼ 0.0143) and in the usually sun-exposed skin. (P ¼ 0.0007).

show abstract

supporting

confidence: 87%

Real-time PCR analysis of a 3895 bp mitochondrial DNA deletion in nonmelanoma skin cancer and its use as a quantitative marker for sunlight exposure in human skin

Harbottle

Birch‐Machin

2006

Br J Cancer

View full text Add to dashboard Cite

show abstract

“…In addition, the missense mutation G5460A affecting the ND2 was reported in pathologically proven Parkinson and Alzheimer's diseases (28). Therefore, it cannot be excluded that mtDNA polymorphisms may result in disturbed protein synthesis, synthesis rate or finally in changed protein structure and therefore influence mitochondrial and cell physiology with the consequence of cancer development susceptibility (3)(4)(5)8,29).…”

Section: Amino Acid Change Gene -------------------------------------mentioning

confidence: 99%

“…This discovery has opened a new field of research currently referred to as 'mitochondrial medicine' and 'mitochondrial oncology'. Multiple reports have found an association between somatic mtDNA mutations and cancer development, progression or metastasis and inherited mtDNA polymorphisms have been indicated as contributing factors in cancer development (3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial NADH-dehydrogenase polymorphisms as sporadic breast cancer risk factor

Petros¹

2009

Oncol Rep

View full text Add to dashboard Cite

Abstract. Breast cancer is the most frequently diagnosed female cancer all over the world. Although the molecular genetics of this disease has been the focus of many projects for over 20 years, the number of prognostic markers used in clinics is still unsatisfactory. Mitochondrial DNA mutations have been reported in many breast cancer studies. To investigate the possible role of mitochondrial inherited polymorphisms in breast cancer development we analyzed the sequence of NADH-dehydrogenase genes in cancer samples and their corresponding normal tissues. We detected increased incidence of mtDNA polymorphisms, in particular very rare polymorphisms such as A4727G, G9947A, A10044G, A10283G, T11233C, and C11503T. Our report supports the notion that mtDNA polymorphisms establish a specific genetic background for breast cancer development and that mtDNA analysis may help in selection of cohorts that should undergo intensive screening and early detection programs.

show abstract

“…Analysis of mitochondrial DNA (mtDNA) sequences plays an important role in the studies on population genetics and in medicine, including veterinary medicine (7,11,12,(27)(28)(29)32). Results published in the recent years have indicated the prevalence of mitochondrial DNA mutations in tumour cells, which suggests that they may be cancer-causing agents (7,11,12,28,29,32,34).…”

Section: Introductionmentioning

confidence: 99%

“…Results published in the recent years have indicated the prevalence of mitochondrial DNA mutations in tumour cells, which suggests that they may be cancer-causing agents (7,11,12,28,29,32,34). Up till now, there has been not stated whether the observed changes in mitochondrial DNA result from the development of tumour or are connected with the process of neoplastic transformation (7,11,12,28,29). GrzybowskaSzatkowska and Slaska (12) report the presence of homological changes in the sequence of mtDNA in breast cancer and some mitochondrial diseases, which indicates that mutations in mtDNA in breast cancer may affect the cell and cause its dysfunction, as in the case of mitochondrial diseases.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial D-loop mutations can be detected in sporadic malignant tumours in dogs

Ślaska

Surdyka

Brodzki³

et al. 2014

Bulletin of the Veterinary Institute in Pulawy

View full text Add to dashboard Cite

The aim of this study was to identify mutations in the D-loop region of mtDNA in head, neck, and limb tumours in dogs, and determination of their relationship with the process of neoplastic transformation. Blood and tumour tissue samples from 19 dogs with diagnosed sporadic malignant tumours were analysed. DNA extraction, amplification, and sequencing of the mtDNA D-loop, and bioinformatic analyses were performed. Five mutations and 19 polymorphisms were observed in 68.42% of all tumours. Polymorphic variants were noted in 42.86% of the head and neck tumours and in 58.33% of the limb tumours. Mutations were observed in 21.05% of dogs. The mutations were found in 28.57% of the head and neck tumours and in 16.66% of the limb tumours. The mutations were identified in 50% of the studied epithelial cancers. In the mesenchymal tumours, no mutations in the D-loop region were observed. Mitochondrial haplotype A17 was found in over 40% cases of limb tumours. No association between the age, breed, sex, type of tumour, and detected polymorphic variants were observed. Different mutational changes in the D-loop sequences of mtDNA identified in the blood and tumour tissues may indicate a relationship between the type of tumour and individual changes in the D-loop nucleotide sequences of mtDNA.

show abstract

Mitochondrial DNA mutations in human neoplasia

Cited by 84 publications

References 67 publications

Real-time PCR analysis of a 3895 bp mitochondrial DNA deletion in nonmelanoma skin cancer and its use as a quantitative marker for sunlight exposure in human skin

Real-time PCR analysis of a 3895 bp mitochondrial DNA deletion in nonmelanoma skin cancer and its use as a quantitative marker for sunlight exposure in human skin

Mitochondrial NADH-dehydrogenase polymorphisms as sporadic breast cancer risk factor

Mitochondrial D-loop mutations can be detected in sporadic malignant tumours in dogs

Contact Info

Product

Resources

About