TRINUCLEOTIDE REPEATS: Mechanisms and Pathophysiology

Within the closing decade of the twentieth century, 14 neurological disorders were shown to result from the expansion of unstable trinucleotide repeats, establishing this once unique mutational mechanism as the basis of an expanding class of diseases. Trinucleotide repeat diseases can be categorized...

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Bibliographic Details
Published in:Annual review of genomics and human genetics 2000-01, Vol.1 (1), p.281-328
Main Authors: Cummings, C. J, Zoghbi, H. Y
Format: Article
Language:English
Subjects:
dynamic mutations
Female
Fragile X Syndrome - genetics
Fragile X Syndrome - physiopathology
Friedreich Ataxia - genetics
Friedreich Ataxia - physiopathology
Humans
Huntington Disease - genetics
Huntington Disease - physiopathology
Machado-Joseph Disease - genetics
Machado-Joseph Disease - physiopathology
Male
Minisatellite Repeats
Muscular Disorders, Atrophic - genetics
Muscular Disorders, Atrophic - physiopathology
Mutation
Myotonic Dystrophy - genetics
Myotonic Dystrophy - physiopathology
Nervous System Diseases - genetics
Nervous System Diseases - physiopathology
neurodegenerative disease
Peptides - genetics
Peptides - physiology
polyglutamine disease
protein aggregates
repeat expansion
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - physiopathology
Trinucleotide Repeats
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Summary:Within the closing decade of the twentieth century, 14 neurological disorders were shown to result from the expansion of unstable trinucleotide repeats, establishing this once unique mutational mechanism as the basis of an expanding class of diseases. Trinucleotide repeat diseases can be categorized into two subclasses based on the location of the trinucleotide repeats: diseases involving noncoding repeats (untranslated sequences) and diseases involving repeats within coding sequences (exonic). The large body of knowledge accumulating in this fast moving field has provided exciting clues and inspired many unresolved questions about the pathogenesis of diseases caused by expanded trinucleotide repeats. This review summarizes the current understanding of the molecular pathology of each of these diseases, starting with a clinical picture followed by a focused description of the disease genes, the proteins involved, and the studies that have lent insight into their pathophysiology.
ISSN:1527-8204
1545-293X
DOI:10.1146/annurev.genom.1.1.281