Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration

摘要: Mutations in optineurin (OPTN) are linked to the pathology of primary open angle glaucoma (POAG) and amyotrophic lateral sclerosis. Emerging evidence indicates that OPTN mutation is involved accumulation damaged mitochondria defective mitophagy. Nevertheless, role played by an E50K pathogenic mitochondrial mechanism underlies retinal ganglion cell (RGC) degeneration POAG remains unknown. We show here expression induces fission-mediated degradation mitophagy axons glial lamina aged E50K-tg mice vivo. While activates Bax pathway oxidative stress, triggers dynamics alteration-mediated RGC somas vitro, it does not affect transport fission vitro. These results strongly suggest associated with dysfunction synergy environmental factors such as aging and/or stress.