, Volume 121, Issue 4, pp 555-557
Date: 17 Feb 2011

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

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We recently reported that mutations in the gene encoding optineurin (OPTN) cause amyotrophic lateral sclerosis (ALS) [2]. In that report, we demonstrated the co-localization of OPTN with TAR DNA-binding protein of 43 kDa (TDP-43) or Cu/Zn superoxide dismutase (SOD1) in the pathognomonic inclusions of sporadic (SALS) or familial ALS (FALS) with mutated SOD1, respectively [2].

Fused in sarcoma (FUS) is another causative gene of ALS [1, 7]. FUS-immunoreactivity is identifiable in basophilic inclusions (BIs) from patients with sporadic basophilic inclusion body disease (BIBD) [4] and in those from ‘FALS with FUS mutation’ patients. The fact that both FUS and OPTN cause ALS when mutated prompted us to investigate the correlation between these proteins.

We analyzed postmortem material from three patients with sporadic BIBD and from three with FALS with FUS mutation. All the patients manifested upper and lower motor neuron signs, but no cognitive impairment was noted. Their demographic and clin ...