Laboratory of Human and Medical Genetics, Graduate Program in Genetics and Molecular Biology, Federal University of Pará, Belém 66075-110, Brazil.
Center for Biological and Health Sciences, State University of Pará, Belém 66087-662, Brazil.
Genes (Basel). 2023 Jul 18;14(7):1465. doi: 10.3390/genes14071465.
Although it has gained more attention in recent years, the relationship between breast cancer (BC) and mitochondrial oxidative phosphorylation (OXPHOS) is still not well understood. Importantly, Complex IV or Cytochrome C Oxidase (COX) of OXPHOS is one of the key players in mitochondrial balance. An in silico investigation of mutations in structural genes of Complex IV was conducted in BC, comprising 2107 samples. Our findings show four variants (rs267606614, rs753969142, rs199476128 and rs267606884) with significant pathogenic potential. Moreover, we highlight nine genes (, , , , , , , and ) with a potential impact on BC.
尽管近年来乳腺癌（BC）与线粒体氧化磷酸化（OXPHOS）之间的关系受到了更多的关注，但人们对其仍了解甚少。重要的是，OXPHOS 的复合物 IV 或细胞色素 C 氧化酶（COX）是线粒体平衡的关键参与者之一。我们对包含 2107 个样本的 BC 中复合物 IV 的结构基因的突变进行了计算机模拟研究，发现了四个具有显著致病性的变体（rs267606614、rs753969142、rs199476128 和 rs267606884）。此外，我们还强调了九个可能对 BC 产生影响的基因（，，，，，，，和）。
