Fig. 1
From: Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy
Possible pathways leading to the loss of FECD CECs. a Gene mutations lead to the accumulation of unfolded proteins, which continue to activate ER stress, and further induce apoptosis through the three UPR pathways (ATF6, PERK, IRE1). Meanwhile, sustained ER stress can induce cell apoptosis through the mitochondria. b Ca2+ overload in FECD CECs may lead to apoptosis and SLC4A11 mutations are likely to result in CECs edema and rupture. eIF2α: α-subunit of eukaryotic translation initiation factor 2; JNK: c-Jun N-terminal kinase; S1P: site-1 protease; S2P: site-2 protease. The pieces of DNA in red represent the missense mutations of COL8A2 and/or SLC4A11 and/or LOXHD1. The purple cells represent dysfunctional CECs in FECD. The blue moons represent the guttae-the focal excrescences of DM