Model of SCN5A Splicing Alteration in Myotonic Dystrophy (IMAGE)

The University of Osaka

Model of SCN5A Splicing Alteration in Myotonic Dystrophy

Caption

MBNL proteins regulate the switch from exon 6A in embryonic heart to exon 6B in adult. In myotonic dystrophic patients, titration of MBNL protein by RNA containing expanded CUG repeats leads to expression of a fetal splicing form of the cardiac sodium channel, SCN5A, inappropriate to adult heart physiology, ultimately resulting in cardiac conduction delay and heart arrhythmias, which are two key features of myotonic dystrophy.

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Nature Comm.

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