COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function - PubMed
5 hours ago
- #copper homeostasis
- #mitochondrial dysfunction
- #COG5
- COG5 deficiency disrupts cellular copper homeostasis and impairs mitochondrial OXPHOS function.
- Proteomic analyses link COG5 dysfunction to mitochondrial oxidative phosphorylation (OXPHOS) deficiency.
- COG5-deficient models show elevated cellular copper levels and reduced OXPHOS complexes, which can be rescued by COG5 restoration or copper chelation.
- Excessive copper disrupts mitochondrial iron-sulfur clusters, leading to complex I assembly defects.
- A patient with biallelic COG5 variants presented with Leigh syndrome, a new phenotype for COG5-related disorders.
- Findings highlight COG5's role in mitochondrial function via a copper-dependent pathway, beyond Golgi-mediated glycosylation.