Investigation of the pathomechanism of myotonic syndromes-Na channel disorders of skeletal muscle and myotonic dystrophy

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Pathomechanism of myotonic syndromes (Na channel disorders of skeletal muscle and myotonic dystrophy) were investigated. Regarding the Na channel disorders of skeletal muscle, the channel function of novel mutations identified in Japanese patients were electrophysiologically analyzed and computer simulation were performed to elucidate pathophysiological mechanism. It should be noted that we identified a first case of non-dystrophic myotonia caused by a mutation in intron and revealed its molecular mechanism. Regarding myotonic dystrophy which is recently hypothesized as "mRNA disease", missplicing of an ion channel mRNA which might be linked to arrhythmia was identified in cardiac muscle.