| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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| Outline of Final Research Achievements |
Repeat expansion disorders are caused by unstable expansions of tandem repeats, such as CAG or CTG. The transcripts containing the expanded repeat or abnormal protein products can give rise to a toxic gain-of-function by the mutant RNA (e.g. myotonic dystrophy) or mutant protein (e.g. Huntington disease). In this study, we identified small molecules that specifically inhibit transcription of mutant alleles with expanded repeats. These compounds reduced abnormal RNA levels in a cell model for myotonic dystrophy. The lead compound showed treatment effects in a mouse model for repeat expansion disorders. These results indicate that allele specific inhibition of mutant mRNA can be a means to treat repeat expansion disorders.
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