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

探讨了肌强直性综合征（骨骼肌钠通道障碍和肌强直性营养不良）的发病机制。针对骨骼肌钠通道紊乱，对日本患者中发现的新突变的通道功能进行电生理分析，并进行计算机模拟，阐明其病理生理机制。值得注意的是，我们发现了第一例由内含子突变引起的非营养不良性肌强直，并揭示了其分子机制。关于最近被假设为“mRNA疾病”的肌强直性营养不良，在心肌中发现了可能与心律失常有关的离子通道mRNA的错误剪接。

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.