Figure 4

Hypothetical model of the effect of AFG3L2 mutations on LCLs. The m-AAA protease (here depicted as the heteromeric paraplegin/AFG3L2 isoform) is a hexameric complex within the inner mitochondrial membrane (IMM), which is involved in protein quality control. We hypothesize that mutations in AFG3L2 result in an impairment of m-AAA and are connected with oxidative stress damages (lipid peroxidation), that lead to cell cycle arrest, increased cell death and consecutive growth delay. (OMM: Outer Mitochondrial Membrane)