2010 Fiscal Year Final Research Report
Investigation of the pathomechanism of myotonic syndromes-Na channel disorders of skeletal muscle and myotonic dystrophy
| Project/Area Number |
20590998
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Osaka University |
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Principal Investigator |
TAKAHASHI Masanori Osaka University, 医学系研究科, 助教 (20359847)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 筋疾患 / ナトリウムチャネル / イオンチャネル / 骨格筋 / シミュレーション / パッチクランプ / mRNA / スプライシング |
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| Research Abstract |
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.
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