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Human Molecular Genetics 2006 15(Review Issue 2):R162-R169; doi:10.1093/hmg/ddl181
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

RNA-dominant diseases

Robert J. Osborne and Charles A. Thornton*

Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA

* To whom correspondence should be addressed at: Department of Neurology, University of Rochester Medical Center, PO Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA. Tel: +1 5852752542; Fax: +1 5852731255; Email: charles_thornton{at}urmc.rochester.edu

Received July 6, 2006; Accepted July 12, 2006

Several examples have come to light in which mutations in non-protein-coding regions give rise to a deleterious gain-of-function by non-coding RNA. Expression of the toxic RNA is associated with formation of nuclear inclusions and late-onset degenerative changes in brain, heart or skeletal muscle. In the best studied example, myotonic dystrophy, it appears that the main pathogenic effect of the toxic RNA is to sequester binding proteins and compromise the regulation of alternative splicing. This review describes some of the recent advances in understanding the pathophysiology of RNA-dominant diseases.


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