Mutations in Structural Genes of the Mitochondrial Complex IV May Influence Breast Cancer

Ricardo Cunha de Oliveira; Sávio Pinho Dos Reis; Giovanna C Cavalcante

doi:10.3390/genes14071465

Mutations in Structural Genes of the Mitochondrial Complex IV May Influence Breast Cancer

Genes (Basel). 2023 Jul 18;14(7):1465. doi: 10.3390/genes14071465.

Authors

Ricardo Cunha de Oliveira¹, Sávio Pinho Dos Reis², Giovanna C Cavalcante¹

Affiliations

¹ Laboratory of Human and Medical Genetics, Graduate Program in Genetics and Molecular Biology, Federal University of Pará, Belém 66075-110, Brazil.
² Center for Biological and Health Sciences, State University of Pará, Belém 66087-662, Brazil.

Abstract

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 (MT-CO1, MT-CO2, MT-CO3, CO4I2, COX5A, COX5B, COX6A2, COX6C and COX7B2) with a potential impact on BC.

Keywords: breast cancer; complex IV; mitochondria; oxidative phosphorylation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Breast Neoplasms* / genetics
Electron Transport Complex IV* / genetics
Female
Genes, Mitochondrial
Humans
Mitochondria / genetics
Mitochondria / metabolism
Mutation

Substances

Electron Transport Complex IV

Associated data

figshare/10.6084/m9.figshare.23260352

Grants and funding

This work was funded by Universidade do Estado do Pará and Pró-Reitoria de Pesquisa (PROPESP/Brazil) from Universidade Federal do Pará (UFPA/Brazil). The funders had no role in study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the article for publication.