Proteomics

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Molecular pathology of SMIM20 deficiency in the mouse heart


ABSTRACT: Mitochondria are key to cellular energetics, metabolism, and signaling. Their dysfunction is linked to devastating diseases including mitochondrial disorders, diabetes, neurodegenerative diseases, cardiac disorders, and cancer. Here, we present a novel knockout mouse model lacking the complex IV assembly factor SMIM20/MITRAC7. SMIM20-/- mice display cardiac pathology with reduced heart weight and cardiac output. Heart mitochondria present with reduced levels of complex IV associated with increased complex I activity, have altered fatty acid oxidation, and display elevated levels of ROS production. Interestingly, mutant mouse cardiomyocytes show unphysiological Ca2+ handling, which can be attributed to the increase in mitochondrial ROS production. Our study presents a new example of a tissue-specific phenotype in the context of OXPHOS dysfunction. Moreover, we identify a molecular link between complex IV dysfunction and Ca2+ handling at the endoplasmic reticulum through ROS signalling.

INSTRUMENT(S):

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Heart

SUBMITTER: Christof Lenz  

LAB HEAD: Christof Lenz

PROVIDER: PXD058185 | Pride | 2025-05-16

REPOSITORIES: Pride

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