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Molecular Basis of Hereditary Neuropathy

Research Project

Project/Area Number 16591008
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionYamagata University

Principal Investigator

HAYASAKA Kiyoshi  Yamagata University, School of Medicine, Professor, 医学部, 教授 (20142961)

Co-Investigator(Kenkyū-buntansha) SHIIHARA Takashi  Yamagata University, University Hospital, Assistant Professor, 医学部, 助手 (90372333)
白幡 恵美  山形大学, 医学部, 医員 (60400553)
Project Period (FY) 2004 – 2005
Project Status Completed (Fiscal Year 2005)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2005: ¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 2004: ¥1,800,000 (Direct Cost: ¥1,800,000)
Keywordshereditary neuropathy / Charcot-Marie-Tooth disease / sodium channel / PRX / MFN2 / HSP27 / distal hereditary motor neuropathy / 遺伝子ニューロパチー / distal heredistary motor nuerophathy / CMT / Hsp22 / Hsp27
Research Abstract

Charcot-Marie-Tooth disease (CMT) is a most common hereditary neuropathy and is a genetically heterogeneous disease. Many responsible genes have been identified, however, disease-causing mutations have not been identified in many patients. In addition, the genotype-phenotype relationship is unknown. We established the reliable and easy diagnostic method using denaturing high performance liquid chromatography (DHPLC) and studied many Japanese patients.
We studied 67 patients with demyelinating CMT who have no mutation in PMP22, Po, Cx32 and FGR2. We screened LITAF, GDAP1, MTMR2, PRX and DRP2 using DHPLC. We identified 4 patients with PRX mutations ; 3 homozygotes for R1070X and one compound heterozygote for R1070X and L132FsX153. The patients with PRX mutations showed early onset but no or slowly progressive symptoms.
We studied MFN2, HSP22, HSP27, MFN1 and DRP1 in 76 Japanese patients with axonal or unclassified CMT or distal hereditary motor neuropathy (dHMN). We detected 7 mutations of MFN2 in 7 unrelated patients; R94Q, T236M, F223L, V244M, F284Y, K357N and E424G. We also found the P182S mutation of HSP27 in one patient with dHMN.
MFN1, MFN2 and DRP1 play a significant role in the fusion of mitochondria, however, MFN2 is an only disease-causing gene of CMT. We cannot identify a disease-causing gene in many patients with CMT. Further study is needed to clarify the molecular basis of CMT.

Report

(3 results)
  • 2005 Annual Research Report   Final Research Report Summary
  • 2004 Annual Research Report
  • Research Products

    (18 results)

All 2005 2004 Other

All Journal Article (17 results) Book (1 results)

  • [Journal Article] Mitochondrial GTPase Mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A2005

    • Author(s)
      Kijima K et al.
    • Journal Title

      Human gentics 116

      Pages: 23-27

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Age-associated axonal features in HNPP with 17p11.2 deletion in Japan2005

    • Author(s)
      Koike H et al.
    • Journal Title

      J Neurol Neurosurg Psych 76

      Pages: 1109-1114

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Small heat shock protein 27 mutation in a Japanese patient with distal hereditary neuropathy2005

    • Author(s)
      Kijima K et al.
    • Journal Title

      J Hum Genet 50

      Pages: 473-476

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Cross-talk between beta(1)-adrenoceptors and ET(A) receptors in modulation of the slow component of delayed rectifier K(+) currents.2005

    • Author(s)
      Lin C et al.
    • Journal Title

      Naunyn Schmiedebergs Arch Pharmacol. 371

      Pages: 133-140

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Clinical and electrophysiologic correlates of IVIg responsiveness in CIDP.2005

    • Author(s)
      Iijima M et al.
    • Journal Title

      Neurology. 64

      Pages: 1471-1475

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Mitochondrial GTPase Mitofusin2mutation in Charcot-Marie-Tooth neuropathy type 2A2005

    • Author(s)
      Kijima K et al.
    • Journal Title

      Human Genetics 116

      Pages: 23-27

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Clinical an electrophysiologic correlates of IVIg responsiveness in CIDP.2005

    • Author(s)
      Iijima M et al.
    • Journal Title

      Neurology 64

      Pages: 1471-1475

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Age-associated axonal features in HNPP with 17p11.2 deletion in Japan2005

    • Author(s)
      Koike H et al.
    • Journal Title

      J Neurol Neurosurg Psych 75

      Pages: 1109-1114

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Small heat shock protein 27 mutation in a Japanese patient with distal hereditary neuropathy2005

    • Author(s)
      Kijima Ket al.
    • Journal Title

      J Hum Genet 50

      Pages: 473-476

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Clinical and electrophysiologic correlates of IVIg responsiveness in CIDP.2005

    • Author(s)
      Iijima Met al.
    • Journal Title

      Neurology 64

      Pages: 1471-1475

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Mitochondrial GTPase Mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A2005

    • Author(s)
      Kijima K 他
    • Journal Title

      Human gentics 116巻

      Pages: 23-27

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Periaxin mutation causes early onset but slow progressive Charcot-Marie-Tooth disease2004

    • Author(s)
      Kijima K et al.
    • Journal Title

      J Hum Genet. 49

      Pages: 376-379

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation2004

    • Author(s)
      Kurihara S 他
    • Journal Title

      J Neurol Neurosurg Psychiatry 75巻

      Pages: 1492-1494

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Periaxin mutation causes early onset but slow progressive Charcot-Marie-Tooth disease2004

    • Author(s)
      Kijima K 他
    • Journal Title

      J Hum Genet 49巻

      Pages: 376-379

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP2004

    • Author(s)
      Shiihara T 他
    • Journal Title

      J Neurol Sci 225巻

      Pages: 125-127

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Age-associated axonal features in HNPP with 17p11.2 deletion in Japan

    • Author(s)
      Koike H 他
    • Journal Title

      J Neurol Neurosurg Psych (In press)

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Cross-talk between beta(1)-adrenoceptors and ET(A) receptors in modulation of the slow component of delayed rectifier K(+) currents

    • Author(s)
      Lin C 他
    • Journal Title

      Naunyn Schmiedebergs Arch Pharmacol (In press)

    • Related Report
      2004 Annual Research Report
  • [Book] Annual Review 神経2004

    • Author(s)
      早坂 清
    • Total Pages
      366
    • Publisher
      中外医学社
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary

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Published: 2004-04-01   Modified: 2016-04-21  

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