Background: Study on genesis and development of tumor is mainly concentrated on gene mutation in nucleus. But in recent years, the role of mitochondrial DNA (mtDNA) mutation in tumor genesis has been given more attention, which is the only extra-nucleus DNA in cells of higher animals. Carcinoma of the uterine cervix is a common tumor in gynecology. There are few reports of mtDNA mutation in this area. The focus of this study was to investigate the mitochondrial DNA mutation in tumor tissues of cervical carcinomas patients and their relationship to tumorigenesis and tumor development.
Methods: The D-loop region of 24 cervical carcinomas together with the adjacent normal tissues were amplified by PCR and sequenced.
Results: Among the 24 cervical carcinomas, 30 mutations were identified with the mutations rate of 37.5% (9/24).There were eight microsatellite instabilities among the mutations and 13 new polymorphisms which were not reported previously in the GeneBank.
Conclusions: The D-loop region of mitochondrial DNA is a highly polymorphoric and mutable region and the mutations rate is relatively high in patients with cervical carcinomas.