New pathomechanism and the application of the treatment for Fukuyama-type congenital muscular dystrophy

1、我们揭示了FCMD是由SVA逆转座插入致病外显子陷阱引起的剪接异常所致。2、我们还检测了FCMD中异常的Fukutin蛋白。3、我们发现在FCMD模型小鼠中也发现了同样的异常剪接模式。4采用硫代修饰的2‘-O-甲基RNA(2’OMePS)和吗啉寡核苷酸设计多个25聚体的AON，寻找最佳的靶序列。

1, We revealed that FCMD is caused by splicing abnormality which is induced by pathogenic exon trapping of SVA retrotransposal insertion. 2, We also detected the abnormal fukutin protein in FCMD. 3, We checked that the same abnormal splicing pattern was seen in FCMD model mice. 4 We adopted phosphorothioate-linked 2'-O-methyl RNA (2'OMePS) and Morpholino oligonucleotides to design several 25 mer AONs to search the best target sequences.