The genetics and pathology of oxidative phosphorylation

The genetics and pathology of oxidative phosphorylation

The mitochondrial oxidative phosphorylation (OXPHOS) system is the final biochemical pathway in the production of ATP. The OXPHOS system consists of five multiprotein complexes, the individual subunits of which are encoded either by the mitochondrial or by the nuclear genome. Defects in the OXPHOS system result in devastating, mainly multisystem, diseases, and recent years have seen the description of the underlying genetic mutations in mitochon…

Baylor Genetics Presents New Data on Genetic and Functional Testing to Diagnose Mitochondrial ...

HOUSTON, March 21, 2025 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory celebrating a decade at the forefront of genetic testing, today shared research on the value of both genetic and functional testing in diagnosing mitochondrial disorders at the…

β-hydroxybutyrate facilitates mitochondrial-derived vesicle biogenesis and improves mitochondrial functions

Mitochondrial dynamics and metabolites reciprocally influence each other. Mitochondrial-derived vesicles (MDVs) transport damaged mitochondrial compon…