[HTML][HTML] Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

S Nakazawa, D Oikawa, R Ishii, T Ayaki… - Nature …, 2016 - nature.com
S Nakazawa, D Oikawa, R Ishii, T Ayaki, H Takahashi, H Takeda, R Ishitani, K Kamei…
Nature communications, 2016nature.com
Optineurin (OPTN) mutations cause neurodegenerative diseases, including amyotrophic
lateral sclerosis (ALS) and glaucoma. Although the ALS-associated E478G mutation in the
UBAN domain of OPTN reportedly abolishes its NF-κB suppressive activity, the precise
molecular basis in ALS pathogenesis still remains unclear. Here we report that the OPTN-
UBAN domain is crucial for NF-κB suppression. Our crystal structure analysis reveals that
OPTN-UBAN binds linear ubiquitin with homology to NEMO. TNF-α-mediated NF-κB …
Abstract
Optineurin (OPTN) mutations cause neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and glaucoma. Although the ALS-associated E478G mutation in the UBAN domain of OPTN reportedly abolishes its NF-κB suppressive activity, the precise molecular basis in ALS pathogenesis still remains unclear. Here we report that the OPTN-UBAN domain is crucial for NF-κB suppression. Our crystal structure analysis reveals that OPTN-UBAN binds linear ubiquitin with homology to NEMO. TNF-α-mediated NF-κB activation is enhanced in OPTN-knockout cells, through increased ubiquitination and association of TNF receptor (TNFR) complex I components. Furthermore, OPTN binds caspase 8, and OPTN deficiency accelerates TNF-α-induced apoptosis by enhancing complex II formation. Immunohistochemical analyses of motor neurons from OPTN-associated ALS patients reveal that linear ubiquitin and activated NF-κB are partially co-localized with cytoplasmic inclusions, and that activation of caspases is elevated. Taken together, OPTN regulates both NF-κB activation and apoptosis via linear ubiquitin binding, and the loss of this ability may lead to ALS.
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