The diverse role of optineurin in pathogenesis of disease

Abstract

Optineurin is a widely expressed protein that possesses multiple functions. Growing evidence suggests that mutation or dysregulation of optineurin can cause several neurodegenerative diseases, including amyotrophic lateral sclerosis, primary open-angle glaucoma, and Huntington's disease, as well as inflammatory digestive disorders such as Crohn's disease. Optineurin engages in vesicular trafficking, receptor regulation, immune reactions, autophagy, and distinct signaling pathways including nuclear factor kappa beta, by which optineurin contributes to cellular death and related diseases, indicating its potential as a therapeutic target. In this review, we discuss the major functions and signaling pathways of optineurin. Furthermore, we illustrate the influence of optineurin mutation or dysregulation to region-specific pathogenesis as well as potential applications of optineurin in therapeutic strategies.

Keywords: Autophagy; Disease; NF-κB; Optineurin; Vesicular trafficking.