Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency.

ABSTRACT: Cytochrome-c-oxidase (COX) subunit 4 (COX4) plays important roles in the function, assembly and regulation of COX (mitochondrial respiratory complex 4), the terminal electron acceptor of the oxidative phosphorylation (OXPHOS) system. The principal COX4 isoform, COX4-1, is expressed in all tissues, whereas COX4-2 is mainly expressed in the lungs, or under hypoxia and other stress conditions. We have previously described a patient with a COX4-1 defect with a relatively mild presentation compared to other primary COX deficiencies, and hypothesized that this could be the result of a compensatory upregulation of COX4-2. To this end, COX4-1 was downregulated by shRNAs in human foreskin fibroblasts (HFF) and compared to the patient's cells. COX4-1, COX4-2 and HIF-1α were detected by immuno

SUBMITTER: Douiev L 

PROVIDER: S-EPMC7924049 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature