Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-08

AUTHORS

Andrew C. Elden, Hyung-Jun Kim, Michael P. Hart, Alice S. Chen-Plotkin, Brian S. Johnson, Xiaodong Fang, Maria Armakola, Felix Geser, Robert Greene, Min Min Lu, Arun Padmanabhan, Dana Clay-Falcone, Leo McCluskey, Lauren Elman, Denise Juhr, Peter J. Gruber, Udo Rüb, Georg Auburger, John Q. Trojanowski, Virginia M.-Y. Lee, Vivianna M. Van Deerlin, Nancy M. Bonini, Aaron D. Gitler

ABSTRACT

The causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative disease, are poorly understood, although the protein TDP-43 has been suggested to have a critical role in disease pathogenesis. Here we show that ataxin 2 (ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models. ATXN2 and TDP-43 associate in a complex that depends on RNA. In spinal cord neurons of ALS patients, ATXN2 is abnormally localized; likewise, TDP-43 shows mislocalization in spinocerebellar ataxia type 2. To assess the involvement of ATXN2 in ALS, we analysed the length of the polyQ repeat in the ATXN2 gene in 915 ALS patients. We found that intermediate-length polyQ expansions (27–33 glutamines) in ATXN2 were significantly associated with ALS. These data establish ATXN2 as a relatively common ALS susceptibility gene. Furthermore, these findings indicate that the TDP-43–ATXN2 interaction may be a promising target for therapeutic intervention in ALS and other TDP-43 proteinopathies. More... »

PAGES

1069-1075

Journal

TITLE

Nature

ISSUE

7310

VOLUME

466

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature09320

DOI

http://dx.doi.org/10.1038/nature09320

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016044698

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20740007


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