| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
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| Outline of Final Research Achievements |
Fukuyama type congenital muscular dystrophy (FCMD) is a second common, severe childhood muscular dystrophy in Japan. All patients have ancestral insertion of a SINE-VNTR-Alu retrotransposal element (SVA) into a causative gene fukutin. We previously showed that aberrant mRNA splicing, induced by SVA exon-trapping caused FCMD.In this study, we optimized of the best, single AON for clinical trial. We re-designed AONs precisely around the splice sites and assessed the efficacy for exon trap inhibition of these AONs in FCMD patient cells and model mice. By testing on normal Fukutin production and functional analysis, we finally selected one best candidate AON termed AON-F. We also succeeded in improvement on production efficacy for AON-F. We show the promise of splicing modulation therapy as the first radical clinical treatment for FCMD in the near future.
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