Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

ABSTRACT: Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown decreased cellular adenosine triphosphate (ATP) derived from respiration, and that ATP levels could be restored with coenzyme Q₁₀ (CoQ₁₀ ) supplementation. This finding is surprising since COX11 has no known role in CoQ₁₀ biosynthesis. Here, we report a novel gene-disease association by identifying biallelic pathogenic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated fa

SUBMITTER: Rius R 

PROVIDER: S-EPMC9771894 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature