8.A.157. The Optineurin (OPTN) Family
Optineurin plays an important role in the maintenance of the Golgi complex, in membrane trafficking and in exocytosis, through its interaction with myosin VI and Rab8 (Fifita et al. 2017). It links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (Fifita et al. 2017). Overexpressed mutant optineurin(E50K) induces retinal ganglion cells apoptosis via the mitochondrial pathway (Meng et al. 2012). OPTN gene therapy may be a strategy to increase autophagy and protect mitochondria, preventing the progression of ALS (Wen et al. 2023).
References associated with 8.A.157 family:
Fifita, J.A., K.L. Williams, V. Sundaramoorthy, E.P. Mccann, G.A. Nicholson, J.D. Atkin, and I.P. Blair. (2017). A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. Amyotroph Lateral Scler Frontotemporal Degener 18: 126-133. 27534431
Meng, Q., J. Lv, H. Ge, L. Zhang, F. Xue, Y. Zhu, and P. Liu. (2012). Overexpressed mutant optineurin(E50K) induces retinal ganglion cells apoptosis via the mitochondrial pathway. Mol Biol Rep 39: 5867-5873. 22422156
Wen, D., Y. Ji, Y. Li, W. Duan, Y. Wang, Z. Li, M. Tao, and Y. Liu. (2023). OPTN gene therapy increases autophagy and protects mitochondria in SOD1-G93A-expressing transgenic mice and cells. FEBS J. [Epub: Ahead of Print] 37983563