A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice

Abstract

A difference in the survival of respiratory chain complex III deficient Bcs1l p.S78G mice was observed between two congenic mouse strains. Here the authors show how in one of the strains the combined effects of a spontaneously arising non-pathogenic variant and the disease-causing Bcs1l p.S78G mutation exacerbate CIII deficiency and disease progression.