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Analysis of peripheral neuropathy in rat cultured nerve introduced mutant IGHMBP2 cDNA.

Research Project

Project/Area Number 17591100
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionSapporo Medical University

Principal Investigator

TACHI Nobutada  Sapporo Medical University, School of Health Sciences, Assistant Professor, 保健医療学部, 助教授 (80136944)

Co-Investigator(Kenkyū-buntansha) YAMASITA Toshiharu  Sapporo Medical University, Department of Dermatology, Assistant Professor, 医学部, 助教授 (50167706)
KOZUKA Naoki  Sapporo Medical University, School of Health Sciences, Professor, 保健医療学部, 教授 (90225459)
Project Period (FY) 2005 – 2006
Project Status Completed (Fiscal Year 2006)
Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2006: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2005: ¥2,600,000 (Direct Cost: ¥2,600,000)
KeywordsSMARD1 / IGHMBP2 gene / Cultured peripheral nerve / Adenovirus vector / 遺伝子導入 / SMARD 1 / 983delAAGAA IGHMBP2 cDNA / 培養ラツト神経細胞
Research Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) known as has been reported as a variant form of SMA 1. Responsible gene is immunoglobulin mu-binding protein 2 (IGHMBP2). We identified a new homozygous missense mutation 2685 C→A of IGHMBP2 gene in a first Japanese patient with SMARD 1. First, we made a 2685 C- A IGHMBP2 cDNA by site-directed mutagenesis bases PCR. We made a constructed adeno virus vector contained both wild and 2685 C- A IGHMBP2 cDNAs. We made a cultured rat peripheral nerve using dorsal root of fetal rat. Those cultured nerves were infected by constructed adeno virus vectors. Myelination and axonal sprouting of cultured nerves infected constructed adeno virus vector were observed by immunohistochenistory using anti-Po antibody and electron microscopy. No differences of myelination and axonal changes were observed in cultured nerves infected constructed adeno virus vector containing both a wild and 2685 C- A IGHMBP2. cDNAs. Further more, transgenic mouse containing 2685 C- A IGHMBP2 should be obtained.

Report

(3 results)
  • 2006 Annual Research Report   Final Research Report Summary
  • 2005 Annual Research Report
  • Research Products

    (12 results)

All 2006 2005

All Journal Article (12 results)

  • [Journal Article] Walker-Warburg症候群と鑑別を要した福山型先天性筋ジストロフィーの1例.2006

    • Author(s)
      加藤高広, 舘 延忠ら
    • Journal Title

      臨床小児医学 54

      Pages: 17-20

    • NAID

      40007293283

    • Related Report
      2006 Annual Research Report
  • [Journal Article] ウイリアムズ症候群児における視空間情報処理過程の特徴.2006

    • Author(s)
      本間朋恵, 舘 延忠ら
    • Journal Title

      作業療法 25

      Pages: 116-123

    • NAID

      10018140282

    • Related Report
      2006 Annual Research Report
  • [Journal Article] A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.2005

    • Author(s)
      Tachi N, Kikuchi S, Kozuka N, et al.
    • Journal Title

      Pediatr Neurol 32

      Pages: 288-290

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] Clinicopathological and virological analyses of familial human T-lymphotropic virus type I-associated polyneuropathy.2005

    • Author(s)
      Sawa H, Nagashima K, Tachi N, et al.
    • Journal Title

      J Neurovirol 11

      Pages: 199-207

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] Structural analysis of leucine-rich-repeat bvariants in proteins associated with human diseases.2005

    • Author(s)
      Matsusima N, Tachi N, Kuroki Y, et al.
    • Journal Title

      Cell Mol Life Sci 62

      Pages: 2771-2791

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] ホルマリン固定組織からのDNA抽出法とPCR法による遺伝子解析.2005

    • Author(s)
      菊池真, 舘 延忠, 小塚直樹 他
    • Journal Title

      札幌医誌 74

      Pages: 39-44

    • NAID

      110001456517

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] 先天性筋強直性ジストロフィー症における3塩基反復配列(CTGリピート)数と筋組織所見の関係.2005

    • Author(s)
      菊池真, 舘 延忠, 小塚直樹 他
    • Journal Title

      総合リハ 33

      Pages: 167-173

    • NAID

      40006627637

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] 1) Aprataxin変異遺伝子689insT患者の小脳症状、末梢神経症状に関する報告.2005

    • Author(s)
      堀本佳誉, 舘 延忠, 小塚直樹 他
    • Journal Title

      北海道理学療法 22

      Pages: 58-62

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] A new mutation of IGHMBP2 gene in spinal muscular atrophy type 1.2005

    • Author(s)
      Tachi N, Kikuchi S et al.
    • Journal Title

      Pediatr Neurol 32

      Pages: 288-290

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Clinicopathological and virological analyses of familial humanT-lymphotropic virus type I-associated polyneuropathy.2005

    • Author(s)
      Sawa H, Tachi N et al.
    • Journal Title

      J Neurovirol 11

      Pages: 199-207

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Structural analysis of leucine-rich-repeat bvariants in proteins associated with human diseases.2005

    • Author(s)
      Matsushima N, Tachi N et al.
    • Journal Title

      Cell Mol Life Sci 62

      Pages: 2771-2791

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Aprataxin変異遺伝子689insT患者の小脳症状、末梢神経症状に関する報告.2005

    • Author(s)
      堀本佳誉, 舘 延忠, 小塚直樹 他
    • Journal Title

      北海道理学療法 22

      Pages: 58-62

    • Related Report
      2005 Annual Research Report

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Published: 2005-04-01   Modified: 2016-04-21  

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