Study of genetic variations of mitochondrial NADH dehydrogenase subunit ۴ in Iranian women with breast cancer

Abstract

Background: Breast cancer is the second reason of death in women population all around the world. One out of every eight women will be diagnosed with breast cancer in Iran. So, finding some clinical markers for prediction of cancer in the early stage is too important. There are many causes for cancer that mutation in the mitochondrial genome is one of the reasons, which had been observed in most breast cancer studies. The aim of this study was to evaluate the genetic region of ND4 in patients with breast cancer. Materials and Methods: This cross-sectional study was conducted on 60 women with breast cancer and 28 healthy women. DNA was extracted from paraffin blocks, the area mtND4 (11646-11860) was amplified by polymerase chain reaction, then the SSCP analysis was used to investigate different conformations between normal and cancer samples. Finally, each sample with different conformation was sequenced. Results: In this study, the sequence of mtND4 in 24 suspected patients was determined and 15 nucleotide changes were reported. the most variations was related to the G11719A polymorphism site. Other changes included 11803delT, G11717A, C11735T, C11716G, C11702T and A11812G. Conclusion: The findings of this study show new genetic changes in the mtND4. So, further studies are required to examine the role of these mutations to detect early breast cancer.