Role of abnormal RNA for the pathophysiology of hereditary muscle diseases
Project/Area Number |
23591245
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Neurology
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Research Institution | Osaka University |
Principal Investigator |
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Project Period (FY) |
2011 – 2013
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Project Status |
Completed (Fiscal Year 2013)
|
Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 筋強直性ジストロフィー / イオンチャネル / スプライシング / mRNA / チャネル病 / 筋疾患 / ナトリウムチャネル / mRNA / シミュレーション / 不整脈 / 国際情報交換 / フランス / パッチクランプ / 心臓 |
Research Abstract |
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.
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Report
(4 results)
Research Products
(50 results)
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[Journal Article] A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1.2014
Author(s)
Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP
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Journal Title
Neurology
Volume: 82
Issue: 12
Pages: 1058-64
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Ultrasound-enhanced delivery of morpholino with Bubble liposomes a meliorates the myotonia of myotonic dystrophy model mice.2013
Author(s)
Koebis M, Kiyatake T, Yamaura H, Nagano K, Higashihara M, Sonoo M, Hayashi Y, Negishi Y, Endo-Takahashi Y, Yanagihara D, Matsuda R, Takahashi MP, Nishino I, Ishiura S.
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Journal Title
Scientific Reports
Volume: Vol.3
Issue: 1
Pages: 2242-2242
DOI
Related Report
Peer Reviewed
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[Journal Article] Muscleblind-like 2 mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.2012
Author(s)
Charizanis K, Lee K-Y, Batra R, 中略 Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Ares Jr M, Darnell RB, Swanson M.
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Journal Title
Neuron
Volume: 75
Issue: 3
Pages: 467-450
DOI
Related Report
Peer Reviewed
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[Journal Article] Muscleblind-like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain2012
Author(s)
Suenaga K, Lee KY, Nakamori M, Tatsumi Y, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Du H, Ares M Jr, Swanson MS, Kimura T
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Journal Title
PLoS One
Volume: 7(3)
Issue: 3
Pages: e33218-e33218
DOI
Related Report
Peer Reviewed
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[Journal Article] A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis2011
Author(s)
Hirano, M., Kokunai, Y., Nagai, A., Nakamura, Y., Saigoh, K., Kusunoki, S. and Takahashi, M. P
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Journal Title
J. Neurol. Sci
Volume: 309
Issue: 1-2
Pages: 9-11
DOI
Related Report
Peer Reviewed
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[Journal Article] Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy2011
Author(s)
Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N
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Journal Title
Nat Struct Mol Biol
Volume: 18(7)
Issue: 7
Pages: 840-5
DOI
Related Report
Peer Reviewed
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[Journal Article] Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy2011
Author(s)
Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N
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Journal Title
Nature Medicine
Volume: 17(6)
Issue: 6
Pages: 720-5
DOI
Related Report
Peer Reviewed
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[Presentation] Altered splicing of cardiac sodium channel might be responsible for cardiac conduction defects in myotonic dystrophy2013
Author(s)
Kokunai Y, Itoh H, Kino Y, Li M, Nakamori M, Kimura T, Matsumura T, Fujimura H, Nukina N, Mochizuki H, Sakoda S, Horie M, Ishiura S, Imoto K, Swanson MS, Charlet Berguerand N, Takahashi MP
Organizer
9th International Myotonic Dystrophy Consortium Meeting
Place of Presentation
Donostia San Sebastian, Spain
Year and Date
2013-10-17
Related Report
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[Presentation] Exome sequencing analysis reveals a mutation of Kir3.4 in a patient with Andersen–Tawil syndrome.2013
Author(s)
Kokunai Y, Nakamori M, Kubota T, Mochizuki H, Takahashi MP, Nakata T, Ohno K, Sakata S, Okamura Y, Kimura H, Itoh H, Horie M, Osaki Y, Shindo K.
Organizer
18th International Congress of The World Muscle Society
Place of Presentation
Asilomar, CA USA
Related Report
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[Presentation] Altered splicing of cardiac sodium channel might be responsible for cardiac conduction defects in myotonic dystrophy.2013
Author(s)
Kokunai Y, Itoh H, Kino Y, Li M, Nakamori M, Kimura T, Matsumura T, Fujimura H, Nukina N, Mochizuki H, Sakoda S, Horie M, Ishiura S, Imoto K, Swanson MS, Charlet Berguerand N, Takahashi MP.
Organizer
9th International Myotonic Dystrophy Consortium Meeting
Place of Presentation
Donostia San Sebastian, Spain
Related Report
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[Presentation] 筋強直性ジストロフィーにおける心筋型Naチャネルのスプライシング異常と心伝導障害2012
Author(s)
穀内 洋介, 紀 嘉浩, Li Moyi, 伊藤 英樹, 中森 雅之, 木村 卓, 松村 剛, 藤村 晴俊, 貫名 信行, 堀江 稔, 井本 敬二, 石浦 章一, Maurice Swanson, 佐古田 三郎, 高橋 正紀, 望月 秀樹
Organizer
第53回日本神経学会学術大会
Place of Presentation
東京
Related Report
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[Presentation] 筋強直性ジストロフィー症における中枢神経スプライシング異常およびその分子機序の解明2012
Author(s)
末永 浩一, 木村 卓, Kuang-Yung Lee, 中森 雅之, 高橋 正紀, 藤村 晴俊, 陣内 研二, 久保 秀司, 玉置(橋本) 知子, Manuel Ares, Maurice Swanson, 芳川 浩男
Organizer
第53回日本神経学会学術大会
Place of Presentation
東京
Related Report
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[Presentation] Impact of unstable microsatellites on brain development, function and disease.2012
Author(s)
Charizanis K, Lee K-Y, 中略 Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Foster TC, Ares Jr M, Darnell RB and Swanson,MS.
Organizer
7th International Conference on Unstable Microsatellites & Human Disease
Place of Presentation
フランス ストラスブール
Related Report
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[Presentation] Altered splicing of cardiac sodium channel in heart muscles of myotonic dystrophy type 12011
Author(s)
Kokunai Y, Kino Y, Li M, Nakamori M, Itoh H, Kimura T, Matsumura T, Fujimura H, Horie M, Imoto K, Ishiura S, Swanson MS, Nukina N, Sakoda S and Takahashi MP
Organizer
8th International Myotonic Dystrophy Consortium Meeting
Place of Presentation
米国 フロリダ
Related Report
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[Presentation] Muscleblind-like 2 knockout mice: a model for splicing alterations and neurological changes in the DM brain.2011
Author(s)
K Charizanis, K-Y Lee, MM Scotti1, G Xia, L Shiue, MS Cline, M Ares Jr, T Kimura, MP Takahashi, H Fujimura, K Jinnai, H Yoshikawa, MS Swanson
Organizer
8th International Myotonic Dystrophy Consortium Meeting
Place of Presentation
米国 フロリダ
Related Report
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[Presentation] Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain2011
Author(s)
T Kimura, K-Y Lee, K Suenaga, M Nakamori, Y Tatsumi, MP Takahashi, H Fujimura, K Jinnai, H Yoshikawa, H Du, M Ares, Jr., MS Swanson
Organizer
8th International Myotonic Dystrophy Consortium Meeting
Place of Presentation
米国 フロリダ
Related Report
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