A leigh syndrome mutation perturbs long-range energy coupling in respiratory complex I.

ABSTRACT: Respiratory complex I is a central enzyme of cellular energy metabolism that couples electron transfer with proton translocation across a biological membrane. In doing so, it powers oxidative phosphorylation that drives energy consuming processes. Mutations in complex I lead to severe neurodegenerative diseases in humans. However, the biochemical consequences of these mutations remain largely unknown. Here, we use the Escherichia coli complex I as a model to biochemically characterize the F124L^MT-ND5 mutation found in patients suffering from Leigh syndrome. We show that the mutation drastically perturbs proton translocation and electron transfer activities to the same extent, despite the remarkable 140 Å distance between the mutated position and the electron transfer doma

SUBMITTER: Hoeser F 

PROVIDER: S-EPMC11938283 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature