Mutations in the D-loop region and increased copy number of mitochondrial DNA in human laryngeal squamous cell carcinoma

Wei, Guo; Yang, D; Xu, Hui; Zhang, Yang; Huang, Jun; Zheng, Yi; Chen, Xiaohong; Huang, Zhigang

doi:10.1007/s11033-012-1939-7

Cited by 39 publications

(34 citation statements)

References 30 publications

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“…The most common polymorphism was substitution in position 15639 (substitution T/A or T/G). The association between changes in the sequence of the D-loop region of mtDNA and larynx tumour was identified by Guo et al (13). In total, 34 mutations in the hypervariable region of the D-loop were identified in more than 50% of the studied individuals.…”

Section: Discussionmentioning

confidence: 89%

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

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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.

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Section: Discussionmentioning

confidence: 89%

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

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“…8 Consistent with this, the D-loop region, which contains essential transcription and replication elements, and is the starting point of the replication of the mtDNA, tends to accumulate mutations at a higher rate than other regions of mtDNA, including the region encoding Cox. 41,42 To limit the number of sequence variants and correct addition of adenosine opposite 8-OHdG, BER glycosylase enzyme MUTYH, removes that adenine. 43 However, MUTYH also becomes subnormal in the retinal mitochondria in diabetes, 5 further contributing to mtDNA sequence variants and damage.…”

Section: Discussionmentioning

confidence: 99%

Retinal Mitochondrial DNA Mismatch Repair in the Development of Diabetic Retinopathy, and Its Continued Progression After Termination of Hyperglycemia

Mishra¹,

Kowluru²

2014

Investigative Ophthalmology & Visual Science

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Citation: Mishra M, Kowluru RA. Retinal mitochondrial DNA mismatch repair in the development of diabetic retinopathy, and its continued progression after termination of hyperglycemia. Invest Ophthalmol Vis Sci. 2014;55:6960-6967. DOI:10.1167/ iovs.14-15020 PURPOSE. Mitochondrial DNA (mtDNA) is damaged in the retina in diabetes, and mitochondria copy numbers are decreased. The displacement-loop (D-loop) of the mtDNA, the region with transcription/replication elements, experiences more damage than other regions of mtDNA. Our aim was to examine the role of DNA mismatch repair (MMR) in mitochondria homeostasis in diabetic retinopathy, and in its continued progression after cessation of hyperglycemia.METHODS. Effect of hyperglycemia on sequence variants in the D-loop region was investigated in retinal endothelial cells and in the retina from streptozotocin-induced diabetic rats using mismatch-specific surveyor nuclease. The role of MMR machinery in mtDNA damage and mitochondrial respiration was investigated in retinal endothelial cells overexpressing Mlh1, an MMR enzyme mainly associated with mtDNA polymerase gamma, or Msh2 (associated with nuclear polymerase beta). CONCLUSIONS. Due to a compromised MMR system, the sequence variants in the D-loop region were not repaired, and that resulted in impaired mtDNA transcription. Mitochondria become dysfunctional, and they continued to be dysfunctional even after hyperglycemia was terminated, contributing to the development, and progression of diabetic retinopathy. Thus, strategies targeting mitochondrial MMR machinery could help maintain mitochondria homeostasis, and inhibit the development of diabetic retinopathy and its continued progression. RESULTS. Hyperglycemia increased sequence variants in

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“…This result suggested the hypothesis that mtMSI in the D-loop may alter mitochondrial DNA copy number (mtCN) or gene expression, and mtCN was focused in various cancers Yin et al, 2004;Dai et al, 2013;Guo et al, 2013). Though reduced mtCN in GC was found in some studies, there was little study about the correlation betwen mtCN and mtMSI in GC (Jun et al, 2012;Wen et al, 2013).…”

Section: Mtmsi In Gastric Cancermentioning

confidence: 99%

Microsatellite Instability of Nuclear and Mitochondrial DNAs in Gastric Carcinogenesis

Lee

Kim²

2014

Asian Pacific Journal of Cancer Prevention

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Genetic instability contributes to the development and progression of gastric cancer, one of the leading causes of cancer death worldwide. Microsatellite instability (MSI) has been hypothesized to be involved in carcinogenesis, althgough its mechanisms and exact roles in gastric cancer remain largely unknown. Our aim was to identify associated clinicopathological characteristics and prognostic value of MSI in gastric cancer and precancerous lesions including gastritis, metaplasia, dysplasia, and adenoma. Because mitochondrial DNA has a different genetic system from nuclear DNA, the results of both nuclear MSI and mitochondrial MSI in gastric cancer were reviewed. This review provides evidence that genetic instability of nuclear and mitochondrial DNAs contributes to early stages of gastric carcinogenesis and suggests possible roles in predicting prognosis.

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Mutations in the D-loop region and increased copy number of mitochondrial DNA in human laryngeal squamous cell carcinoma

Cited by 39 publications

References 30 publications

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

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

Retinal Mitochondrial DNA Mismatch Repair in the Development of Diabetic Retinopathy, and Its Continued Progression After Termination of Hyperglycemia

Microsatellite Instability of Nuclear and Mitochondrial DNAs in Gastric Carcinogenesis

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