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

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 (<i>mtDNA</i>) and <i>p53</i> 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. <i>mtDNA</i> and <i>p53</i> 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 <i>mtDNA</i> mutations and 3 different positive correlations between <i>p53</i> gene and <i>mtDNA</i> mutations were detected. The high incidence of <i>mtDNA</i> and <i>p53</i> gene mutations in bladder cancer suggests that these genes could be important in carcinogenesis.