Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma
Open accessAbstract
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 both associated with ALS and glaucoma. Optineurin is a highly abundant protein involved in a wide range of cellular processes, including inflammatory responses, autophagy, Golgi maintenance, and vesicular transport. In this review, we summarise the role of optineurin in cellular mechanisms implicated in neurodegenerative disorders, including neuroinflammation, autophagy and vesicular trafficking, focusing particularly on the consequences of expression of the mutations associated with ALS and glaucoma. This review showcases the impact of optineurin dysfunction in ALS and glaucoma.
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Mitochondrial abnormalities, together with OPTN-positive inclusions and de novo OPTN mutations found in sALS, are suggestive of attenuated mitophagy.
“Such mitochondrial abnormalities, together with observations of OPTN-positive inclusions and de novo OPTN mutations found in sALS [286–289], are suggestive of attenuated mitophagy.”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [288]
OPTN mutations produce microglial activation and glaucoma.
“OPTN mutations produce microglial activation and glaucoma [288]”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [288]
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References 202 · Cited by 114
- Authors
- Toth, R. P., & Atkin, J. D.
- Affiliations
- Macquarie University (AU)
- La Trobe University (AU)
- Corresponding author
- Atkin, Julie D.
- ORCID
- Atkin, Julie D.
- Venue
- Frontiers in Immunology
- Publisher
- Frontiers Media SA
- Published
- 2018-05-23
- Volume
- 9
- Pages
- 1017-1017
- ISSN
- 1664-3224 (ISSN-L)
- PMC
- PMC5974248
- OpenAlex
- W2804588242
- Cited by
- 114
- References
- 202
- Citations by year
- 2026: 6 · 2025: 15 · 2024: 11 · 2023: 20 · 2022: 18 · 2021: 14 · 2020: 20 · 2019: 9 · 2018: 1
- FWCI
- 1.73
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Frontiers in Immunology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Health and Medical Research Council (10305133, 1086887 and 1095215)
- Motor Neurone Disease Research Institute of Australia
- Cure for MND Foundation
- Macquarie University
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- optineurin, amyotrophic lateral sclerosis, glaucoma, neurodegeneration, neuroinflammation, autophagy, vesicle trafficking, motor neuron degeneration, retinal ganglion cell death, frontotemporal dementia
- MeSH terms
- Amyotrophic Lateral Sclerosis, Animals, Autophagy, Glaucoma, Humans, Mutation, Cell Cycle Proteins, Membrane Transport Proteins, Transcription Factor TFIIIA, Mice
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