The exon 45 skipping therapy of induced pluripotent stem cells derived cardiomyocyte from the DMD patient with exon 46-55 deletion

Abstract

Background: Duchenne muscular dystrophy (DMD) is an X-linked lethal muscular disorder and is caused by a mutation in the DMD gene encoding dystrophin. It has been reported that a deletion of exon 45–55 covering a whole hot-spot mutational region of the DMD gene causes a very mild Becker muscular dystrophy or asymptomatic dystrophinopathy. In dystrophinopathy, cardiomyopathy sometimes is a critical issue; therefore, the DMD specific induced pluripotent stem cells(iPSC)-derived cardiomyocytes might be a useful for elucidation of the pathomechanism and evaluation of the therapeutic efficacy.