Role of abnormal RNA for the pathophysiology of hereditary muscle diseases

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Pathomechanism of hereditary skeletal muscle diseases, especially myotonic dystrophy (DM) and channelopathies of skeletal muscle were investigated in the light of RNA abnormality. Regarding DM, the pathomechanism of arrhythmia which is clinically important as a cause of sudden death in DM, was investigated. An mRNA missplicing of ion channel was identified in DM hearts and the subsequent electrophysiological analyses and in silico simulation revealed its link with arrhythmia. Regarding the channelopathies of skeletal muscle, the molecular mechanism of the splicing of minor AT-AC II intron was investigated for the first disease mutation identified recently. It should be of note that a novel causative gene for a channelopathy of muscle was identified.