Complete sequence of the ATP6 and ND3 mitochondrial genes in breast cancer tissue of postmenopausal women with different body mass indexes

Ann Diagn Pathol. 2018 Feb:32:23-27. doi: 10.1016/j.anndiagpath.2017.09.001. Epub 2017 Sep 10.

Abstract

Due to the fact that mitochondrial defects and oxidative stress have been related with obesity and breast cancer is more aggressive in women with obesity, we investigated if postmenopausal Mexican-Mestizo women with breast cancer presented somatic mutations in the sequence of the ATP6 and/or ND3 genes. Twenty one postmenopausal Mexican-Mestizo women with breast cancer who underwent mastectomy or breast conserving surgery were studied. Height and weight were used to calculate body mass index. DNA from tumor tissue samples and blood leukocytes was amplified by polymerase chain reaction and sequenced the ATP6 and ND3 mitochondrial genes. Ages ranged from 46 to 82. According to World Health Organization criteria among the 21 women, 7 had a normal BMI, 7 were overweight and 7 had obesity. In regard to the molecular study, after sequencing the coding region of ATP6 and ND3 genes of the DNA obtained from both leukocytes and tumor tissue, we did not find somatic mutations. All of the changes that we found in both genes were polymorphisms: in ATP6, we identified in ten patients 3 non-synonymous nucleotide changes and in ND3 we observed that six patients presented polymorphisms, three of them were synonymous and two non-synonymous. To our knowledge, this constitutes the first report where the complete sequence of the ATP6 and ND3 genes has been analyzed in postmenopausal Mexican-Mestizo women with breast cancer and diverse BMI. Our results differ with those reported in Caucasian and Asian populations, possibly due to ethnic differences.

Keywords: ATP6; BMI; Breast cancer; ND3; Postmenopausal Mexican-Mestizo women; Somatic mutations.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Body Mass Index
  • Breast Neoplasms / complications
  • Breast Neoplasms / genetics*
  • Carcinoma, Ductal, Breast / complications
  • Carcinoma, Ductal, Breast / genetics*
  • DNA Mutational Analysis
  • Electron Transport Complex I / genetics*
  • Female
  • Genes, Mitochondrial / genetics
  • Humans
  • Mexico
  • Middle Aged
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Obesity / complications
  • Overweight / complications
  • Postmenopause

Substances

  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases
  • Electron Transport Complex I
  • MT-ND3 protein, human