Review on optineurin mutation in neurodegeneration diseases

doi:10.16098/j.issn.0529-1356.2016.03.025

Abstract

Abstract:

Optineurin (OPTN) is often considered as a pathological marker protein of Primary Open Angle Glaucoma (POAG) and Amyotrophic Lateral Sclerosis (ALS).OPTN participates in various cellular functions, such as regulation of post-Golgi membrane trafficking, secretion, autophagy of intracellular pathogen, antiviral innate immune response, regulation of mitosis，gene expression and NF-κB pathway. In the OPTN mutant ALS patient, the damaged motor neurons show cytoplasm OPTN ubiquitination aggregation, protein inclusions formation and co-locolized with ALS-interacting SOD1、TDP43、FUS proteins. In this review, we focus on recent studies on OPTN mutation in amyotrophic lateral sclerosis and its pathogenesis, pathology and treatment.

LIU Hui SHEN Jing-ling*. Review on optineurin mutation in neurodegeneration diseases[J]. AAS, 2016, (3): 429-432.

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