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

Author:

de Oliveira Ricardo Cunha1ORCID,dos Reis Sávio Pinho2,Cavalcante Giovanna C.1ORCID

Affiliation:

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.

Funder

Universidade do Estado do Pará

Universidade Federal do Pará

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

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