Mitochondrial nd1 gene alteration in breast cancer patients
Keywords:Mitochondrial DNA, ND1 gene, breast cancer, somatic mutation
Mitochondrial ND1 gene encodes NADH dehydrogenase subunit 1 which is in the complex I of the respiratory chain. Alterations of ND1 gene in breast cancer have been reported worldwide, however, no studies have been conducted in Vietnam. In this work, we analyzed the alterations of ND1 gene, especially focusing on T4216C mutation and A4164G variant. Of all 101 breast cancer patients studied, the T4216C mutation was only found in one patient and it was a rare mutation in Vietnam. Meanwhile, the frequency of A4164G variant was 21.2% in patients with breast cancer and 9% in control. This variant has been shown to be related to breast cancer (p<0.05). Analysis of blood and breast tumor tissues in 16 cases showed that A4164G variant did not appear the same in different tissues of the same patient. Therefore, A4164G alteration might be a somatic mutation. In this study we identified some nucleotide alterations including G3412A variant, which was a new and unpublished alteration, and six nucleotide alterations that changed the amino acid sequence.