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Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Mohanraj, Karthik 
Wasilewski, Michal 
Benincá, Cristiane 
Cysewski, Dominik 
Poznanski, Jaroslaw 

Abstract

Nuclear and mitochondrial genome mutations lead to various mitochondrial diseases, many of which affect the mitochondrial respiratory chain. The proteome of the intermembrane space (IMS) of mitochondria consists of several important assembly factors that participate in the biogenesis of mitochondrial respiratory chain complexes. The present study comprehensively analyzed a recently identified IMS protein cytochrome c oxidase assembly factor 7 (COA7), or RESpiratory chain Assembly 1 (RESA1) factor that is associated with a rare form of mitochondrial leukoencephalopathy and complex IV deficiency. We found that COA7 requires the mitochondrial IMS import and assembly (MIA) pathway for efficient accumulation in the IMS We also found that pathogenic mutant versions of COA7 are imported slower than the wild-type protein, and mislocalized proteins are degraded in the cytosol by the proteasome. Interestingly, proteasome inhibition rescued both the mitochondrial localization of COA7 and complex IV activity in patient-derived fibroblasts. We propose proteasome inhibition as a novel therapeutic approach for a broad range of mitochondrial pathologies associated with the decreased levels of mitochondrial proteins.

Description

Keywords

COA7/RESA1, mitochondrial disease, proteasome, protein degradation, protein import

Journal Title

EMBO Molecular Medicine

Conference Name

Journal ISSN

1757-4676
1757-4684

Volume Title

Publisher

Wiley
Sponsorship
MRC (MC_UP_1002/1)
Medical Research Council (MC_UU_00015/8)
European Research Council (322424)
MRC (MC_UU_00015/8)
Medical Research Council (MC_UP_1002/1)
Medical Research Council (MC_UU_00015/7)
Narodowe Centrum Nauki (NCN) NCN 2012/05/B/NZ3/00781NCN 2015/19/B/NZ3/03272 Deutsche Forschungsgemeinschaft (DFG) SFB1190 (P13) Fundacja na rzecz Nauki Polskiej (FNP) TEAM TECH CORE FACILITY/2016‐2/2MAB/2017/2COP/01/2016 Ministerstwo Nauki i Szkolnictwa Wyższego (MNiSW) Ideas Plus programme 000263 RCUK|Medical Research Council (MRC) MC_UU_00015/5 EC|FP7|FP7 Ideas: European Research Council (FP7 Ideas) FP7‐322424339580 Institut de France Telethon Italy GTB12001