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Charcot-Marie-Tooth病の病態解明

Research Project

Project/Area Number 08670853
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

早坂 清  山形大学, 医学部, 教授 (20142961)

Co-Investigator(Kenkyū-buntansha) 池田 博行  山形大学, 医学部附属病院, 助手 (80261709)
Project Period (FY) 1996 – 1997
Project Status Completed (Fiscal Year 1997)
Budget Amount *help
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1997: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1996: ¥1,300,000 (Direct Cost: ¥1,300,000)
Keywords遺伝性ニューロパチー / Charcot-Marie-Tooth病 / Charcot-Marie-Tooth病1型 / Peripheral Myelin Protein 22 / P0蛋白 / Connexin32 / Po蛋白 / PNP22
Research Abstract

Charcot-Marie-Tooth(CMT)病は2500人に一人と最も頻度が高い遺伝性末梢神経疾患であり、近年、1型の病因遺伝子が解明されてきている。CMT病1型の8割の病例では染色体17p11.2-p12の遺伝子重複(CMT1Aの遺伝子重複)が検出され、重複の認められない病例ではPeripheral Myelin Protein 22(PMP22)、P0蛋白、Connexin32 (CX32)の遺伝子変異が認めれる。CMT1Aの遺伝子重複の検出が遺伝子診断の第一歩であり、私達は遺伝子重複の部位に位置する反復配列から分離されたプローブを利用してサザンブロットハイブリダイゼーションを行い、放射活性をイメージアナライザーで計測するという簡便で確実な診断法を確立した。次に、CMT1Aの遺伝子重複の認められない症例に対しては、Single Strand Conformational Polymorphism (SSCP)法を用い、Peripheral Myelin Protein 22 (PMP22)、P0蛋白、Connexin32 (Cx32)の遺伝子変異についてスクリーニングする方法を確立した。病態の解明のために、診断のフローチャートを作成し、これに従い、国内各地から依頼のあった71家系を解析し17p11.2-p12の遺伝子重複を15家系、17p11.2-p12の遺伝子欠失を4家系、PMP22遺伝子変異を2家系、P0蛋白遺伝子変異を4家系、Cx32遺伝子変異を5家系に検出した。PMP22、P0蛋白、Cx32遺伝子変異の殆どは新しい変異であった。合計41家系に何らかの遺伝子変異を検出したが、残る30家系については病因が不明であった。欧米の報告と異なり、遺伝子重複の病例は少なく、病因遺伝子が同定されない症例が多く、今後の解明が求められる。

Report

(2 results)
  • 1997 Annual Research Report
  • 1996 Annual Research Report
  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] Ikegami K., et al.: "Facilitated diagnosis of the CMT1A duplication in chromosome 17p11.2-12 analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging." Human Mutation. 9巻. 563-566 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Yamamoto M., et al.: "Location of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP." Hum. Genet.99巻. 151-154 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Abe Y., et al.: "Pressure palsy as the initial presentation in a case of late-onset Charcot-Marie-Tooth disease type 1A (CMT1A)." Internal Medicine. 36巻. 501-503 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Ikegami T., et al.: "A novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease." Am. J. Med. Genet.97巻. 246-248 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Ikegami T., et al.: "De novo mutation of the myelin Po gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III) : Two amino acid insertion after Asp 118." Human Mutation. 1巻. S103-S105 (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] Ikegami T., et al.: "Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease." Hum. Genet.(発売予定).

    • Related Report
      1997 Annual Research Report
  • [Publications] Ikegami T,et al.: "A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (Hereditary motor and sensory neuropathy type III)" Biochem. Biophys. Res. Commun.222:. 107-110 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Ikegami T,et al.: "De novo mutation of the myelin Po gene in Dejerine-Sottas disase (hereditary motor and sensory neuropathy type III) : Two amino acid insertion after Asp 118." Human Mutation. (印刷中).

    • Related Report
      1996 Annual Research Report
  • [Publications] Ikegami T,et al.: "Facilitated diagnosis of the CMT1A duplication in chromosome 17p11.2-12 : analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging" Human Mutation. (印刷中).

    • Related Report
      1996 Annual Research Report
  • [Publications] Yamamoto M: "Location of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP." Hum. Genet.(印刷中).

    • Related Report
      1996 Annual Research Report
  • [Publications] Yamamoto M: "Clustering of CMT1A duplication breakpoints in a 700 bp interval of CMT1A-REP determined by polymerase chain reaction" Human Mutation. (印刷中).

    • Related Report
      1996 Annual Research Report
  • [Publications] Ikegami T,Ikeda H ; Hayasaka K,Ishii S;: "Mutation of the Myelin Po Gene in a Pedigree with Charcot-Marie-Tooth Disease" Am. J. Med. Genet.(印刷中).

    • Related Report
      1996 Annual Research Report

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

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