Martínez-Ramírez Mónica, Coral-Vázquez Ramón Mauricio, Tenorio Alberto, Méndez Juan Pablo, Benítez-Granados Jesús, Maffuz Asis Antonio, Rodríguez Cuevas Sergio, Domínguez Reyes Carlos, Erazo-Valle Aura, Canto Patricia
Unidad de Investigación en Obesidad, Facultad de Medicina, Universidad Nacional Autónoma de México, México, D.F., México.
Sección de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, México, D.F., México; Subdirección de Enseñanza e Investigación, Centro Médico Nacional "20 de Noviembre", Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, México, D.F., México.
Ann Diagn Pathol. 2018 Feb;32:23-27. doi: 10.1016/j.anndiagpath.2017.09.001. Epub 2017 Sep 10.
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.
由于线粒体缺陷和氧化应激与肥胖有关，且肥胖女性患乳腺癌的侵袭性更强，我们研究了绝经后墨西哥梅斯蒂索族乳腺癌女性的ATP6和/或ND3基因序列中是否存在体细胞突变。我们研究了21名接受乳房切除术或保乳手术的绝经后墨西哥梅斯蒂索族乳腺癌女性。通过身高和体重计算体重指数。用聚合酶链反应扩增肿瘤组织样本和血液白细胞中的DNA，并对ATP6和ND3线粒体基因进行测序。年龄范围为46至82岁。根据世界卫生组织的标准，在这21名女性中，7人的BMI正常，7人超重，7人肥胖。在分子研究方面，对从白细胞和肿瘤组织中获得的DNA的ATP6和ND3基因编码区进行测序后，我们未发现体细胞突变。我们在两个基因中发现的所有变化均为多态性：在ATP6中，我们在10名患者中鉴定出3个非同义核苷酸变化，在ND3中，我们观察到6名患者存在多态性，其中3个是同义的，2个是非同义的。据我们所知，这是首篇对不同BMI的绝经后墨西哥梅斯蒂索族乳腺癌女性的ATP6和ND3基因完整序列进行分析的报告。我们的结果与白种人和亚洲人群中报告的结果不同，这可能是由于种族差异所致。
