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these findings expand our knowledge on the molecular mechanism of ubiquitin- decorated autophagic substrates recognition by OPTN as well as the mutual regulation between OPTN and TBK1 in selective autophagy.
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study performed mutational analysis of optineurin (OPTN) in six patients with amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) in Guam on the Kii Peninsula to reveal whether OPTN is associated with the pathomechanisms of Kii ALS/PDC. This is the first report of OPTN-positive inclusions in patients with Kii ALS/PDC.
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rs1561570 may contribute to Paget's disease of bone since its T allele results in the loss of a methylation site in patients' DNA, leading to higher levels of OPTN gene expression and a corresponding increase in protein levels in patients' osteoclasts.
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Results suggest that Optn potentiates LC3-II production and maturation of the phagophore into the autophagosome, by facilitating the recruitment of the Atg12-5-16L1 complex to Wipi2-positive phagophores.
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Immunohistochemical analyses of motor neurons from OPTN-associated amyotrophic lateral sclerosis patients reveal that linear ubiquitin and activated NF-kappaB are partially co-localized with cytoplasmic inclusions, and that activation of caspases is elevated.
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This study describes the crystal structures of optineurin/TBK1 complex and the related NAP1/TBK1 complex, uncovering the detailed molecular mechanism governing the optineurin and TBK1 interaction, and revealing a general binding mode between TBK1 and its associated adaptor proteins.
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Data suggest that OPTN mRNA and protein expression are significantly decreased in fetal membranes and myometrium during spontaneous term labor; there appears to be no effect of preterm labor on OPTN expression in fetal membranes. In cultured myometrial cells, RNA interference of OPTN up-regulates expression of inflammation mediators in response to IL1B (inteleukin-1B).
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When yeast genetic interaction partners held in common between human OPTN and ANG were validated in mammalian cells and zebrafish, MAP2K5 kinase emerged as a potential drug target for amyotrophic lateral sclerosis therapy
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A new variant associated with Paget's Disease of Bone in OPTN, reinforcing the relevance of this gene for the development of this bone disease.
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OPTN colocalizes with LC3 (autophagic vesicle marker) and alpha-synuclein positive puncta in rotenone-treated animals, potentially indicating an important role in autophagy and PD pathogenesis
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Given the critical roles of TBK1, important regulatory mechanisms are required to regulate its activity. Among these, Optineurin (Optn) was shown to negatively regulate the interferon response, in addition to its important role in membrane trafficking, protein secretion, autophagy and cell division.
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E50K, M98K, Q398X and E478G mutations in OPTN affect neuronal viability under normal or oxidative stress conditions.
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We report a five-generation pedigree with a complex pattern of primary open angle glaucoma(POAG) inheritance; familial clustering of POAG in this pedigree is consistent with dominant inheritance of a glaucoma-causing gene, mutations were not detected in genes previously associated with autosomal dominant glaucoma, suggesting the involvement of a novel disease-causing gene in this pedigree.
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These results suggest that the IRAK1-binding protein OPTN negatively regulates IL-1beta/LPS-induced NF-kappaB activation by preventing polyubiquitination of TRAF6.
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This study therefore provides novel information regarding the role of Optn during T-cell activation, suggesting the possible importance of Optn during inflammation and/or autoimmune diseases.
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Frontotemporal dementia -linked mutations in gene OPTN encoding autophagy adaptor proteins , indicate that impaired autophagy might cause Frontotemporal dementia.
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The present study provides insight into the genetic or haplotype variants of MYOC and OPTN genes contributing to primary glaucoma. Haplotype variants identified in the present study may be regarded as potential contributing factors of primary glaucoma in Korea.
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the E50K OPTN mutation markedly reduced the levels of miR-9, which led to alterations in REST and reduced expression levels of BDNF in RGC-5 cells.
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ALS-linked mutations in OPTN and TBK1 can interfere with mitophagy, suggesting that inefficient turnover of damaged mitochondria may represent a key pathophysiological mechanism contributing to neurodegenerative disease.
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We conclude that OPTN mutations are associated with Amyotrophic lateral sclerosis
