Abstract

Abstract Introduction: Mitochondrial dysfunction is related to the genesis of many types of cancers, including breast cancer. Mitochondrial tRNA genes perform several functions including processing and translation in which are essential components of mitochondrial protein synthesis. Until now only few somatic mitochondrial tRNA mutations have been reported in cancer cells. The aim of this study was to find out the relationship between mitochondrial DNA mutations and breast cancer. Patients and Methods: In current this study, 22 mitochondrial tRNAs genes in 30 tumoral tissues and adjacent non-tumoral tissues of patients with breast cancer and 100 blood samples of healthy controls were investigate using PCR-Sequencing methods. Results and conclusions: From 30 breast cancer cases, twelve genetic variations were found in 22 tRNA MtDNA. Six of twelve (50%) were novel and remaining was polymorphism. Among new variants, which incloding C1631A (tRNA Val), T1633A (tRNA Val), A5565G (tRNA Trp), G5849A (tRNA Tyr) were at hetroplasmic state and remaining which including C12187 (tRNA His) and A15948G (tRNA Thr) were at homoplasmic. Among variants, A12308G, a polymorphic mutation in V-loop (tRNALeu(CUN)), was found in 23% breast tumoral tissues (7 of 30) and 3%in healthy blood controls (3 of 100), indicating a statistically significant association of the A12308G alteration between tumoral tissues and controls(p < 0.05).Our finding indicate that , the A12308G alteration may increase the risk of breast cancer through its impact on the tRNA structure result in mitochondrial dysfunction. Therefore, it may consider as a pathogenic predisposition factor for the breast cancer risk. Note: This abstract was not presented at the meeting. Citation Format: Sara Eslamizadeh, Massoud Ghaffarpour, Mohammad Arabzadeh, Massoud Houshmand. Mitochondrial 22 tRNAs alterations in Iranian breast cancer patients. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 4323. doi:10.1158/1538-7445.AM2014-4323

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