Roles of trinucleotide-repeat RNA in neurological disease and degeneration

A large number of human diseases are caused by expansion of repeat sequences – typically trinucleotide repeats – within the respective disease genes. The abnormally expanded sequence can lead to a variety of effects on the gene: sometimes the gene is silenced, but in many cases the expanded repeat s...

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Bibliographic Details
Published in:Trends in neurosciences (Regular ed.) 2010-06, Vol.33 (6), p.292-298
Main Authors: Li, Ling-Bo, Bonini, Nancy M
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Degeneration
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Fundamental and applied biological sciences. Psychology
General aspects. Models. Methods
Humans
Medical sciences
Nerve Degeneration - genetics
Nervous System Diseases - genetics
Neurodegeneration
Neurological disorders
Neurology
Neurosciences
Ribonucleic acid
RNA
RNA - genetics
Toxicity
Trinucleotide Repeat Expansion - genetics
Vertebrates: nervous system and sense organs
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Summary:A large number of human diseases are caused by expansion of repeat sequences – typically trinucleotide repeats – within the respective disease genes. The abnormally expanded sequence can lead to a variety of effects on the gene: sometimes the gene is silenced, but in many cases the expanded repeat sequences confer toxicity to the mRNA and, in the case of polyglutamine diseases, to the encoded protein. This article highlights mechanisms by which the mRNAs with abnormally expanded repeats can confer toxicity leading to neuronal dysfunction and loss. Greater understanding of these mechanisms will provide the foundation for therapeutic advances for this set of human disorders.
ISSN:0166-2236
1878-108X
DOI:10.1016/j.tins.2010.03.004