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Article

Mutant CHCHD10 disrupts cytochrome c oxidation and activates mitochondrial retrograde signaling.

EMBO molecular medicine - 1 Feb 2026

Campos-Ribeiro Márcio Augusto, Donnarumma Erminia, Nolte Hendrik, Cobine Paul, Vimont Elodie, Milenkovic Dusanka, Hernandez-Camacho Juan Diego, Langa-Vives Francina, Kornobis Etienne, Pénard Esthel, Yde Sonny, Langer Thomas, Paquis-Flucklinger Véronique, Wai Timothy

Abstract excerpt

Mutations in CHCHD10, a mitochondrial intermembrane space (IMS) protein implicated in proteostasis and cristae maintenance, cause mitochondrial disease. Knock-in mice modeling the human CHCHD10S59L variant associated with ALS-FTD develop a mitochondrial cardiomyopathy driven by CHCHD10 aggregation and activation of the mitochondrial integrated stress response (mtISR). We show that cardiac dysfunction is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41420107
DOI: 10.1038/s44321-025-00358-5
PMCID: PMC12905356

Genes

CHCHD10
OMA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Mutant CHCHD10 disrupts cytochrome c oxidation and activates mitochondrial retrograde signaling.PMID 41420107Read ↗

Mutant CHCHD10 disrupts cytochrome <i>c</i> oxidation and activates mitochondrial retrograde signaling in a model of cardiomyopathySemantic proximity Read ↗

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OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathySemantic proximity Read ↗

Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathySemantic proximity Read ↗

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High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice.Semantic proximity Read ↗

A CHCHD10 variant causing ALS elicits an unfolded protein response through the IRE1/XBP1 pathwaySemantic proximity Read ↗

In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.Semantic proximity Read ↗

Loss of CHCHD2 and CHCHD10 reveals differential vulnerability to bioenergetic failure in cardiac and skeletal muscleSemantic proximity Read ↗

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