Association of mtDNA 10398 Polymorphism in Invasive Breast Cancer

Summary of article contents:

Introduction

The study investigates the association of the mitochondrial DNA (mtDNA) 10398 polymorphism with invasive breast cancer risk in Malay women. This polymorphism is believed to affect the mitochondrial subunit of the electron transfer chain and has been linked to various neurodegenerative disorders and cancers. A total of 101 breast cancer patients and 90 age-matched healthy controls were genotyped for the 10398 polymorphism using minisequencing analysis. The findings indicated that the 10398G variant in Malay women significantly increases the risk of developing invasive breast cancer.

Expression of Apoptotic Proteins

One of the key findings of the study pertains to the levels of pro-apoptotic and anti-apoptotic proteins in breast cancer cells and their correlation with the mtDNA 10398 polymorphism. Immunohistochemistry analysis demonstrated that patients with the 10398G allele exhibited significantly higher levels of Bax, a pro-apoptotic protein, compared to Bcl-2, an anti-apoptotic protein (P = 0.016). In contrast, no significant difference in expression of these proteins was observed in patients carrying the A allele (P = 0.48). This suggests that the mtDNA 10398G variant may alter the apoptotic mechanisms within breast cancer cells, possibly leading to the survival and proliferation of tumor cells.

Conclusion

The findings of this study position the mtDNA 10398 polymorphism as a potential risk marker for breast cancer susceptibility specifically in the Malay population. The increased expression of Bax in patients carrying the G allele indicates its role in the apoptosis signaling cascades associated with breast cancer. Further research is needed to elucidate the molecular and biochemical mechanisms by which this polymorphism contributes to breast cancer development, as well as to explore the potential for employing it in screening and preventive strategies for at-risk individuals.