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. 2016 Oct;12(4):2872-2879.
doi: 10.3892/ol.2016.5000. Epub 2016 Aug 11.

Investigation of the association between mitochondrial DNA and p53 gene mutations in transitional cell carcinoma of the bladder

Tuba Avcilar  1 , Deniz Kirac  2 , Deniz Ergec  1 , Gulsah Koc  3 , Korkut Ulucan  4 , Zehra Kaya  5 , Elif Cigdem Kaspar  6 , Levent Turkeri  7 , Ahmet Ilter Guney  1
Affiliations

Investigation of the association between mitochondrial DNA and p53 gene mutations in transitional cell carcinoma of the bladder

Tuba Avcilar et al. Oncol Lett. 2016 Oct.

Abstract

Bladder carcinoma is the most common malignancy of the urinary tract. The major aim of the present study is to investigate the association between mitochondrial DNA (mtDNA) and p53 gene mutations in bladder carcinoma. A total of 30 patients with transitional cell carcinoma and 27 controls were recruited for the study. Bladder cancer tissues were obtained by radical cystectomy or transurethral resection. Genomic DNA was extracted from peripheral blood. mtDNA and p53 genes were amplified by polymerase chain reaction and sequenced directly. A total of 37 polymorphisms were identified, among which, 2 mutations were significant in the patient group, and 1 mutation was significant in the control group. Additionally, 5 different moderate positive correlations between mtDNA mutations and 3 different positive correlations between p53 gene and mtDNA mutations were detected. The high incidence of mtDNA and p53 gene mutations in bladder cancer suggests that these genes could be important in carcinogenesis.

Keywords: TCC; bladder carcinoma; mtDNA; p53.

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Figures

Figure 1.
Figure 1.
Representative DNA sequencing chromatograms of polymorphisms in mitochondrial DNA genes and in the p53 gene. Black arrows indicate the locations of the mutations. ND1, reduced nicotinamide adenine dinucleotide dehydrogenase 1; ATPase6, adenosinetriphosphatase 6; Cytb, cytochrome b; del, deletion; ins, insertion.
Figure 2.
Figure 2.
Representative chromatograms of D310 sequence somatic mutations. (A) 9C/10C and (B) 10C/11C heteroplasmic insertion of cytosine.
See this image and copyright information in PMC

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