Gene therapy for neuromuscular disease

2012 Fiscal Year Final Research Report

• Project/Area Number: 23890163
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: Kumamoto University
• Principal Investigator: MORI Akira 熊本大学, 医学部附属病院, 医員 (70608877)
• Project Period (FY): 2011 – 2012
• Keywords: 筋萎縮性側索硬化症 / 小胞体ストレス / Derlin-1 / 変異 SOD1 / 神経細胞死 / アデノ随伴ウイルス / induced Pluripotent Stem (iPS) 細胞

Research Abstract

We are intended to develop the gene therapy for neuromusculardisease, especially about amyotrophic lateralsclerosis. At the beginning, We consideredto use NB2a cells, origined from neuroblastoma, previously we have used, but we succeededto establish induced Pluripotent Stem (iPS) cells derived from amyotrophiclateralsclerosis patient skins, and these are considered to reflect pathology much morethan NB2a cells. Therefore, we started using these cells, and were continuing experimentsto prove the participation of endoplasmic reticulum stress. However, maintenancecultivation of an iPS cells is difficult from some technical problems, so we are seekingand solving these problems. If we resolve these problems, we expect that many resultsare obtained.

Research Products

• [Journal Article] Muscle biopsy findings predictive ofmalignancy in rare infiltrativedermatomyositis. (2012)
  • Author(s): Makoto Uchino, Satoshi Yamashita, Katshhisa Uchino, Akira Mori, Akio Hara, Tomohiro Suga, Tomoo Hirahara, Tatsuya Koide, En Kimura, Taro Yamashita, Akihiko Ueda, Reiichi Kurisaki, Junko SuzukiShoji Honda, Yasushi Maeda, Teruyuki Hirano, Yukio Ando. Clin Neurol Neurosurg
  • Journal Title: Clin Neurol Neurosurg Volume: 115 Pages: 603-606
  • Peer Reviewed
• [Journal Article] Significant CMAP decrement byrepetitive nerve stimulation is morefrequent in median than ulnar nerves ofpatients with amyotrophic lateralsclerosis (2012)
  • Author(s): Satoshi Yamashita, HideyaSakaguchi, Akira Mori, En Kimura, MaedaYasushi, Hirano Teruyuki, Uchino Makoto
  • Journal Title: Muscle Nerve Volume: 45(3) Pages: 426-8
  • Peer Reviewed
• [Journal Article] Sporadic juvenile amyotrophic lateralsclerosis caused by mutant FUS/TLS:possible association of mentalretardation with this mutation. (2011)
  • Author(s): SatoshiYamashita, Akira Mori, Hideya Sakaguchi,Tomohiro Suga, Daijiro Ishihara, AkihikoUeda, Taro Yamashita, Yasushi Maeda,Makoto Uchino, Teruyuki Hirano
  • Journal Title: Journal ofNeurology Volume: 259(6) Pages: 1039-44
  • Peer Reviewed
• [Journal Article] Derlin-1 overexpression amelioratesmutant SOD1-induced endoplasmic reticulumstress by reducing mutant SOD1accumulation. (2011)
  • Author(s): Akira Mori, SatoshiYamashita, Katsuhisa Uchino, TomohiroSuga, Tokunori Ikeda, Koutaro Takamatsu,Masatoshi Ishizaki, Tatsuya Koide, EnKimura, Shuji Mita, Yasushi Maeda,Teruyuki Hirano and Makoto Uchino.
  • Journal Title: Neurochemistry International Volume: 58(3) Pages: 344-53
  • Peer Reviewed
• [Presentation] Significant CMAP decrement by repetitivenerve stimulation is more frequent inmedian than ulnar nerves of patients withamyotrophic lateral sclerosis (2012)
  • Author(s): Mori A, Yamashita S, Sakaguchi H, KimuraE, Maeda Y, Hirano T, Uchino M, Ando Y
  • Organizer: 23th international Symposium on ALS/MND
  • Place of Presentation: Chicago, IL, USA
  • Year and Date: 20121205-07