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Assessment of the frequency of mitochondrial tRNA variants in patients with ovarian cancer

Ke He, Gang Niu, Wang Jing, Lin-Jing Yuan, Li-Nan Xu, Hu Qu

Background: Alternations in mitochondrial DNA (mtDNA) have long been proposed to be involved in the pathogenesis of ovarian cancer (OC). However, the allele frequency of mitochondrial tRNA (mttRNA) variants in OC remains largely understood.

Objective: To explore the potential association between mt-tRNA variants and OC.

Methods: 95 OC patients and 50 control subjects were participated in this study. The 22 mt-tRNA genes were PCR amplified and subsequently sequenced by ABI-3700 automatic DNA sequencer. Moreover, we used phylogenetic approach to determine the pathogenic status of these mt-tRNA variants.

Results: We identified 4 mt-tRNA variants: the tRNA^Thr A15951G; tRNA^His G12192A; tRNA^Glu A14693G and tRNA^Leu(UUR) A3302G, whereas these tRNA variants were absent in healthy controls. Moreover, these variants localized at positions which were highly conserved between different species, and may cause the failure in mt-tRNAs metabolism, consequently result in mitochondrial dysfunction that responsible for OC.

Conclusions: Variations in mt-tRNAs may be associated with OC.