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Distributon and genetic heterogeneity of famillial amyloid polyneuropathy in the east Asian area.

Research Project

Project/Area Number 08670700
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionShinshu University

Principal Investigator

IKEDA Shu-ichi  Department of Medicine, Shinshu University, School of Medicine, Professor, 医学部, 教授 (60135134)

Co-Investigator(Kenkyū-buntansha) TOKUDA Takahiko  Department of Medicine, Shinshu University, School of Medicine, Associate, 医学部, 助手 (80242692)
Project Period (FY) 1996 – 1998
Project Status Completed (Fiscal Year 1998)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1998: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1997: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1996: ¥700,000 (Direct Cost: ¥700,000)
Keywordsfamilial amyloid polyneuropathy / amyloid / transthyretin / gene abnormalities / 人口アミロイドーシス / 質量分析
Research Abstract

Familial amyloid polyneuropathy (FAP) is a hereditary systemic amyloidosis characterized by polyneuropathy with autonomic failure and this disease is caused by transthyretin gene abnormality. Recently. FAP are known to show variable phenotypes and wider geographic distribution but type I FAP with Met30TTR is the most common form of the disease. In this study we investigated FAP families and their gene abnormalites in the east Asian area. To detect many different types of variant TIRs in serum we have developed a new technique using a MALDI/TOF mass spectrometry (MS). We screened the presence or absence of variant TTRs in the sera of patients using this MALDI/TOF MS system and then, we performed DNA sequence of TTR gene in the patients. As a result , we found the following FAP families : a family with Met30TTR and that with Val33TTR in China, a family with Ser97TTR and two families with AIa38TTR in Japan. In the past many FAP kindreds including 12 different types of variant TTR were described in Japan and those with Met30TTR have been reported in Turkey, Vietnam and Indonesia, and a kindred with Val38TTR was also reported in Korea. In addition, a kindred with Pro55 TTR was described in Taiwan. FAP patients are now widely distributed in the different nations of the world and the present study has clearly shown that this disease is more common than previously recognized.

Report

(4 results)
  • 1998 Annual Research Report   Final Research Report Summary
  • 1997 Annual Research Report
  • 1996 Annual Research Report
  • Research Products

    (11 results)

All Other

All Publications (11 results)

  • [Publications] Ikeda S,Tokuda T,et al.: "Transthyretin Met 30 familial amyloid Polyneurepathy in China.Usefulness of mass spectrometry for screening variant" Amyloid:Int J Exp Clin Invest. 4. 104-107 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 池田修一: "家族性アミロイドポリニューロパチーの臨床像とその遺伝子診断" Medical Technology. 26. 889-895 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yamamoto K,Ikeda S,et al.: "A Podigree analysis with minimided as certain ment bias shows anticipation in Met 30-transthyrefin related familial anyloid" J Med Genet. 35. 23-30 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Ikeda S,Tokuda, T.et al: "Transthyretin Met 30 familial amyloid polyneuropathy in China. Usefulness of mass spectrometry for screening a variant TTR in serum" Amyloid : Int J.Exp.Clin.Invest. 4. 104-107 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Ikeda S: "Clinical pictures and gene abnormalities of familial amyloid polyneuropathy" Medical Technology. 26 (8). 889-895 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yamamoto K,Ikeda S,et al: "A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy." J Med Genet. 35. 23-30 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Ikeda S, Tokuda T, et al.: "Transtlytin Met30 familial amyloid Polyneurcepatly in china. usefulness of mass spectrometry for screening vaxiaut TTR in seyur." Amyloid : Int J Exp Clin Invest. 4. 104-107 (1997)

    • Related Report
      1998 Annual Research Report
  • [Publications] 池田修一: "家族性アミロイドポリニューロパチーの臨床像とその遺伝子診断" 26. 889-895 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Yamamoto K, Ikeda S.: "A Pedigree analysis with minimided ascertain ment beas shows anticipation In Met30-transthyrefin related familial anyloid Polyneuyopatly" J Med Genet. 35. 23-30 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Ikeda S, Tokuda T et al.: "Transthyretin Met30 familial amyloid polyneuropathy in China.Usefulness of mass apectrometry for screening a variant TTR in serum." Amyloid : Int j Exp Clin Invest. 4. 104-107 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Ikeda S,Tokuda T,et al.: "Transthyretin Met30 familial amyloid polyneuropathy in China. Usefulness of mass spectrometry for screening a variant TTR in serum." Amyloid : Int J Exp Clin Invest. (in press).

    • Related Report
      1996 Annual Research Report

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Published: 1996-04-01   Modified: 2016-04-21  

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