Establishment of treatment for spinal muscular atrophy via splicing-visualized neuroblastoma cell line

2012 Fiscal Year Final Research Report

• Project/Area Number: 23791175
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: MORIKAWA Satoru 神戸大学, 大学院・医学研究科, 助教 (50457074)
• Project Period (FY): 2011 – 2012
• Keywords: 小児神経学

Research Abstract

The survival motor neuron (SMN) gene is the disease-causing gene of SMA, and it exists as two nearly identical copies, SMN1 and SMN2. SMN1 is the critical gene involved in Spinal Muscular Atrophy (SMA), as more than 95% of SMA patients have SMN1 exon 7 homozygous deletions. SMN2 almost produces alternatively spliced transcripts that lack exon 7. To search candidate drugs correcting alternative splicing of SMN2, we have to establish the system which can accurately assess SMN2 splicing. We could establish the evaluation system of SMN splicing through a fragment analysis to determine the quantity of full-length SMN2 transcripts and a shorter isoform resulting from exon 7 skipping.

Research Products

• [Journal Article] Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper (2012)
  • Author(s): Harahap NI, Harahap IS, Kaszynski RH, Nurputra DK, Hartomo TB, Pham HT, Yamamoto T, Morikawa S, Nishimura N, Rusdi I, Widiastuti R, Nishio H
  • Journal Title: Genet Test Mol Biomarkers Volume: 16 Pages: 123-129
  • Peer Reviewed
• [Journal Article] Harahap IS, Saito T, San LP, Sasaki N, Gunadi, Nurputra DK, Yusoff S, Yamamoto T, Morikawa S, Nishimura N,Lee MJ, Takeshima Y, Matsuo M, Nishio H (2012)
  • Author(s): Harahap IS, Saito T, San LP, Sasaki N, Gunadi, Nurputra DK, Yusoff S, Yamamoto T, Morikawa S, Nishimura N,Lee MJ, Takeshima Y, Matsuo M, Nishio H
  • Journal Title: Brain Dev Volume: 34 Pages: 213-222
  • Peer Reviewed
• [Journal Article] Diagnosis of spinalmuscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening escraluation for SMN1 deletions and intragenic mutations (2012)
  • Author(s): Morikawa S, Harahap IS, Kaszynski RH,Yamamoto T, Pramudya DK, Pham HT,Hartomo TB, Lee MJ, Morioka I,Nishimura N, Yokoyama N, Ueno Y, MatsuoM, Nishio H
  • Journal Title: Genet Test Mol Biomarkers Volume: 15 Pages: 677-684
  • Peer Reviewed
• [Presentation] SMN2 遺伝子量解析による予測よりも軽症の経過をとった脊髄性筋萎縮症患者に対するプロモーター解析 (2012)
  • Author(s): 森川 悟, 中川 卓, 富永 康仁, 沖永 剛志, 西村 範行, 竹島 泰弘, 松尾 雅文, 西尾 久英
  • Organizer: 第54回日本小児神経学会総会
  • Place of Presentation: 札幌
  • Year and Date: 20120517-19
• [Presentation] 脊髄性筋萎縮症患者のSMNプロモーター領域における転写活性 (2012)
  • Author(s): 寳田 徹, 近江 昇一, 竹内 敦子, Nurputra Dian Kesuma Pramudya,森川悟, 西尾 久英
  • Organizer: 日本薬学会第132 年会
  • Place of Presentation: 札幌
  • Year and Date: 20120328-31