Research CommentariesBiomedicine

Triplet-Repeat Transcripts: A Role for RNA in Disease

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Science  01 May 1998:
Vol. 280, Issue 5364, pp. 696-697
DOI: 10.1126/science.280.5364.696

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A group of baffling diseases, including myotonic dystrophy and Huntington's disease, are caused by expansion of a triplet nucleotide sequence within certain genes in successive generations. A report in this week's issue indicates a likely mechanism by which these repeated sequences alter cell physiology in myotonic dystrophy. In his commentary, Singer outlines the new results--that the excess repeats may inappropriately bind a splicing factor necessary for proper expression of muscle proteins--and discusses the possible application of these findings to other triplet-repeat diseases.