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Molecular diagnosis of Charcot-Marie-Tooth disease in Japan: quantitative alterations in the major causative genes

Research Project

Project/Area Number 25860842
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionYamagata University

Principal Investigator

ABE Akiko  山形大学, 医学部, 非常勤講師 (10536949)

Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
KeywordsCharcot-Marie-Tooth病 / 遺伝性ニューロパチー / MLPA法
Outline of Final Research Achievements

To determine the mechanisms of pathogenesis for Charcot-Marie-Tooth disease (CMT), we examined the genes that had already been known to be responsible for the development of CMT. In addition, we studied two families affected with autosomal-recessive (AR)-axonal CMT by a parametric linkage analysis using genome-wide SNP microarray and whole-genome analysis (WGA) using a next-generation sequencing. We detected the autosomal-dominant gene mutations as follows: 14 cases of MFN2 mutation, 1 of GARS, 5 of MPZ, 5 of GDAP1, 6 of GJB1, and 1 of PRPS1. Compound heterozygous OPA1 mutations were detected in the siblings who showed variable clinical symptoms. We also found a novel AR-causative gene, COX6A1 in two families. The homozygous COX6A1 mutation is a cause of autosomal-recessive axonal CMT or intermediate CMT. Since the causative genes have not yet been detected in most Japanese patients with CMT, WGA by using a next-generation sequencer would be useful for molecular diagnosis of CMT.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (7 results)

All 2015 2014 2013

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 1 results) Presentation (1 results) Book (1 results)

  • [Journal Article] A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.2014

    • Author(s)
      Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K.
    • Journal Title

      Am J Hum Genet.

      Volume: 95 Issue: 3 Pages: 294-300

    • DOI

      10.1016/j.ajhg.2014.07.013

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Charcot-Marie-Tooth病type 4B1とmyelin outfoldings.2014

    • Author(s)
      村上龍文,久徳弓子,西村広健,林真貴子,阿部暁子,早坂清,砂田芳秀
    • Journal Title

      末梢神経

      Volume: 25 Pages: 52-58

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mild phenotype of Charcot-Marie-Tooth disease type 4B12013

    • Author(s)
      Tatsufumi Murakami, Yumiko Kutoku, Hirotake Nishimura, Makiko Hayashi, Akiko Abe, Kiyoshi Hayasaka, Yoshihide Sunada
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 334 Issue: 1-2 Pages: 176-179

    • DOI

      10.1016/j.jns.2013.08.001

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] INF2 mutationsin Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.2013

    • Author(s)
      Toyota K, Ogino D, Hayashi M, Taki M, Saito K, Abe A, Hashimoto T, Umetsu K, Tsukaguchi H, Hayasaka K.
    • Journal Title

      J Peripher Nerv Syst.

      Volume: 18(1) Issue: 1 Pages: 97-98

    • DOI

      10.1111/jns5.12014

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.2013

    • Author(s)
      Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K.
    • Journal Title

      J Hum Genet.

      Volume: 58 Issue: 5 Pages: 273-278

    • DOI

      10.1038/jhg.2013.15

    • NAID

      10031177222

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] 劣性軸索型および混合型Charcot-Marie-Tooth病における新規病因遺伝子COX6A1の同定2015

    • Author(s)
      早坂清,田宮元,牧野悟士,沼倉周彦,林真貴子,阿部暁子,植木優夫,田中敦,他田正義,小野寺理
    • Organizer
      第57回日本先天代謝異常学会
    • Place of Presentation
      大阪国際会議場(大阪府大阪市)
    • Year and Date
      2015-11-14
    • Related Report
      2015 Annual Research Report
  • [Book] シャルコー・マリー・トゥース病診療マニュアル 改定2版2015

    • Author(s)
      阿部暁子,早坂清,大竹弘哲,岡本裕嗣,小野寺理,小林庸子,滋賀健介,高嶋博,辻有希子,中川正法,能登祐一,橋口昭大,蜂須賀明子,蜂須賀研二,服部直樹,松嶋康之,宮口琢磨,山下敏彦,山田隆司,和田郁雄,渡邉耕太
    • Total Pages
      181
    • Publisher
      金芳堂
    • Related Report
      2015 Annual Research Report

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Published: 2014-07-25   Modified: 2019-07-29  

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