SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease

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Title SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease
Author Pountney, Dean Louis; Huang, Y.; Burns, R.J.; Haan, E.; Thompson, P.D.; Blumbergs, P.C.; Gai, W.P.
Journal Name Experimental Neurology
Year Published 2003
Place of publication Ireland
Publisher Academic Press
Abstract Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by progressive ataxia and neuronal nuclear inclusions (NIs), similar to the inclusions found in expanded CAG repeat diseases. NIID may be familial or sporadic. The cause of familial NIID is poorly understood, as no CAG expansion has been detected. We examined three cases, from two unrelated families, who had autosomal dominant NIID but normal CAG repeats in genes involved in polyglutamine neurodegenerative diseases. We found that NIs in all three cases were intensely immunopositive for SUMO-1, a protein which covalently conjugates to other proteins and targets them to the nuclear regions (nuclear bodies) responsible for nuclear proteasomal degradation. Electron microscopy demonstrated that SUMO-1 was located on the 10-nm fibrils of NIs. In cultured PC12 cells, we found that inhibition of proteasome function by specific inhibitors resulted in the appearance of SUMO-1-immunopositive nuclear inclusions. Our study suggests that recruitment of SUMO-1 modified proteins into insoluble nuclear inclusions and proteasomal dysfunction may be involved in the pathogenesis of NIs in familial NIID cases.
Peer Reviewed Yes
Published Yes
Publisher URI http://www.elsevier.com/locate/yexnr
Alternative URI http://dx.doi.org/10.1016/j.expneurol.2003.07.004
Volume 184
Issue Number 1
Page from 436
Page to 446
ISSN 0014-4886
Date Accessioned 2006-07-26
Date Available 2009-01-13T07:11:00Z
Language en_AU
Research Centre Griffith Health Institute
Faculty Griffith Health Faculty
Subject PRE2009-Cell Neurochemistry
URI http://hdl.handle.net/10072/16890
Publication Type Journal Articles (Refereed Article)
Publication Type Code c1x

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