Abstract
Neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and glaucoma, affect millions of people worldwide. ALS is caused by the loss of motor neurons in the spinal cord, brainstem, and brain, and genetic mutations are responsible for 10% of all ALS cases. Glaucoma is characterized by the loss of retinal ganglion cells and is the most common cause of irreversible blindness. Interestingly, mutations in OPTN, encoding optineurin, are associated with both ALS and glaucoma. Optineurin is a highly abundant protein involved in a wide range of cellular processes, including the inflammatory response, autophagy, Golgi maintenance, and vesicular transport. In this review, we summarize the role of optineurin in cellular mechanisms implicated in neurodegenerative disorders, including neuroinflammation, autophagy, and vesicular trafficking, focusing in particular on the consequences of expression of mutations associated with ALS and glaucoma. This review, therefore showcases the impact of optineurin dysfunction in ALS and glaucoma.
Highlights
Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and GlaucomaReviewed by: Christian Lobsiger, UMR7225 Institut du cerveau et de la moelle épinière (ICM), France Agustina Alaimo, Universidad de Buenos Aires, Argentina
Neurodegenerative diseases are characterized by the degeneration and consequent death of neurons in specific regions of the brain and/or spinal cord
Expression of the glaucoma mutant E50K in retinal ganglion cells (RGCs) revealed no difference in interferon regulatory transcription factor 3 (IRF3) activation compared to cells expressing wild-type optineurin [131], suggesting that this pathway may not be implicated in glaucoma
Summary
Reviewed by: Christian Lobsiger, UMR7225 Institut du cerveau et de la moelle épinière (ICM), France Agustina Alaimo, Universidad de Buenos Aires, Argentina. Neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and glaucoma, affect millions of people worldwide. ALS is caused by the loss of motor neurons in the spinal cord, brainstem, and brain, and genetic mutations are responsible for 10% of all ALS cases. Mutations in OPTN, encoding optineurin, are associated with both ALS and glaucoma. Optineurin is a highly abundant protein involved in a wide range of cellular processes, including the inflammatory response, autophagy, Golgi maintenance, and vesicular transport. We summarize the role of optineurin in cellular mechanisms implicated in neurodegenerative disorders, including neuroinflammation, autophagy, and vesicular trafficking, focusing in particular on the consequences of expression of mutations associated with ALS and glaucoma. This review, showcases the impact of optineurin dysfunction in ALS and glaucoma
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