Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Mariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, Chih-chieh Yu, Kouhei Mori, Tetsuya Oda, Atsushi Kuga, Hiroki Kurahashi, Hasan O. Akman, Salvatore DiMauro, Ryuji Kaji, Toshifumi Yokota, Shin’ichi Takeda and Tatsushi Toda ()
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Mariko Taniguchi-Ikeda: Kobe University Graduate School of Medicine
Kazuhiro Kobayashi: Kobe University Graduate School of Medicine
Motoi Kanagawa: Kobe University Graduate School of Medicine
Chih-chieh Yu: Kobe University Graduate School of Medicine
Kouhei Mori: Kobe University Graduate School of Medicine
Tetsuya Oda: Kobe University Graduate School of Medicine
Atsushi Kuga: Kobe University Graduate School of Medicine
Hiroki Kurahashi: Institute for Comprehensive Medical Science, Fujita Health University
Hasan O. Akman: Columbia University Medical Center
Salvatore DiMauro: Columbia University Medical Center
Ryuji Kaji: The University of Tokushima Graduate School
Toshifumi Yokota: Faculty of Medicine and Dentistry, University of Alberta
Shin’ichi Takeda: National Institute of Neuroscience, National Center of Neurology and Psychiatry
Tatsushi Toda: Kobe University Graduate School of Medicine

Nature, 2011, vol. 478, issue 7367, 127-131

Abstract: Talking antisense: fukutin rescue in muscular dystrophy Fukuyama muscular dystrophy is caused by the insertion of a mobile genetic element, the SVA retrotransposon, into the non-coding region of the fukutin gene. Tatsushi Toda and colleagues show that this insertion truncates the fukutin transcript as a result of an abnormal splicing event, a situation known as pathogenic exon trapping. Fukutin function is restored by treatment of dystrophy mouse model cells or human patient cells with antisense oligonucleotides that prevent the abnormal splicing. The results have implications for other diseases that show SVA exon trapping.

Date: 2011
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DOI: 10.1038/nature10456

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