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Author Notes:
Correspondence: Stephen Warren Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA swarren@emory.edu
Figures were drawn with assistance of J. Frisch.
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Research Funding:
The authors’ work in this area was supported by grants from the N.I.H. (NS022920 & NS045667, H.T.O.; HD020521 and HD024064, S.T.W.; NS051630 and HD024064, D.L.N.)
The Unstable Repeats - Three Evolving Faces of Neurological Disease
Abstract:
Disorders characterized by expansion of an unstable nucleotide repeat account for a number of inherited neurological diseases. Here, we review examples of unstable repeat disorders that nicely illustrate the three of the major pathogenic mechanisms associated with these diseases: loss-of-function typically by disrupting transcription of the mutated gene, RNA toxic gain-of-function, and protein toxic gain-of-function. In addition to providing insight into the mechanisms underlying these devastating neurological disorders, the study of these unstable microsatellite repeat disorders has provided insight into very basic aspects of neuroscience.
Copyright information:
© 2013 Elsevier Inc. All rights reserved.
This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (http://creativecommons.org/licenses/by-nc-nd/4.0/).
