期刊
JOURNAL OF BIOCHEMISTRY
卷 -, 期 -, 页码 -出版社
OXFORD UNIV PRESS
DOI: 10.1093/jb/mvad012
关键词
RAN translation; repeat expansion disease; non-canonical translation; neuromuscular disease; neurodegeneration
Expanded short tandem repeats cause more than 50 monogenic diseases, which are mostly neuromuscular diseases. Recently, it has been discovered that expanded repeat sequences can be translated into repeat polypeptides through non-canonical repeat-associated non-AUG translation (RAN translation). These translated repeat polypeptides have been proven to be toxic and play a role in the pathogenesis of repeat expansion diseases.
Expanded short tandem repeats cause more than 50 monogenic diseases, which are mostly neuromuscular diseases. In the non-coding repeat expansion diseases, in which the expanded repeat sequence is located outside of the coding region, the toxicity of the transcribed repeat-containing RNAs had been the focus of research. However, recent studies have revealed that repeat RNAs can be translated into repeat polypeptides, despite the lack of an AUG initiation codon, by non-canonical repeat-associated non-AUG translation (RAN translation). RAN translated repeat polypeptides have actually been confirmed in patients' tissues. Moreover, various cellular and animal disease models have demonstrated the toxicity of these peptides, suggesting the pathogenic roles of RAN translation in the repeat expansion diseases. In this review, we will outline RAN translation, from the viewpoint of its molecular mechanisms to its potential as a therapeutic target for the repeat expansion diseases.
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