Molecular diagnosis of Charcot-Marie-Tooth disease in Japan

• Project/Area Number: 22790964
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Yamagata University
• Principal Investigator: ABE Akiko 山形大学, 医学部, 非常勤講師 (10536949)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: Charcot-Marie-Tooth病 / 遺伝性ニューロパチー / DHPLC法 / MLPA法 / Charcot-Maric-Tooth病

Research Abstract

In order to reveal the pathophysiological mechanisms of developing Charcot-Marie-Tooth disease (CMT), we examined the genes that had already been recognized as disease-causing genes of CMT. To evaluate the involvement of deletion or duplication of the responsible genes, we established the modified analyzing method of MLPA for the responsible genes. We have reported that a compound heterozygous minor and large deletions of PMP 22 gene was detected in a patient with severe CMT by MLPA. We identified the disease-causing gene mutations in many Japanese CMT patients and revealed the genotype-phenotype relationship. CMT1A, which is most frequently found in Caucasian CMT patients, was less frequent in Japanese population. Furthermore, we could not identify the disease-causing mutation in most Japanese CMT patients. To identify the genetic background of Japanese CMT patients, we should establish sensitive screening methods and search for novel responsible genes.

Research Products

• [Journal Article] Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan (2011)
  • Author(s): Abe A, Hayasaka K, et al
  • Journal Title: J Hum Genet Volume: 56 Issue: 5 Pages: 364-368
  • DOI: 10.1038/jhg.2011.20
  • NAID: 10030659221
  • Peer Reviewed
• [Journal Article] Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation (2010)
  • Author(s): Hamaguchi A, Ishida C, Iwasa K, Abe A, Yamada M
  • Journal Title: J Neurol Volume: 257 Issue: 7 Pages: 1202-4
  • DOI: 10.1007/s00415-010-5491-x
  • Peer Reviewed
• [Journal Article] Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. (2010)
  • Author(s): Abe A, Hayasaka K, 他7人
  • Journal Title: J Hum Genet Volume: 55 Issue: 11 Pages: 771-773
  • DOI: 10.1038/jhg.2010.106
  • NAID: 10030737757
  • Peer Reviewed
• [Journal Article] Phenotypic variability in a family with Townes-Brocks syndrome (2010)
  • Author(s): Sudo Y, Hayasaka K, 他4名
  • Journal Title: J Hum Genet Volume: 55 Issue: 8 Pages: 550-551
  • DOI: 10.1038/jhg.2010.64
  • NAID: 10030736454
  • Peer Reviewed
• [Journal Article] Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. (2010)
  • Author(s): Hamaguchi A, Ishida C, Iwasa K, Abe A, Yamada M
  • Journal Title: J Neurol. Volume: 257 Pages: 1202-1204
  • Peer Reviewed
• [Journal Article] Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. (2010)
  • Author(s): Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K
  • Journal Title: J Hum Genet. Volume: 55 Pages: 771-773
  • NAID: 10030737757
  • Peer Reviewed
• [Presentation] 日本人におけるCharcot-Marie-Tooth病1A型重複について (2011)
  • Author(s): 阿部暁子, 林真貴子, 沼倉周彦, 木島一己, 橋本多恵子, 白幡惠美, 池上徹, 早坂清
  • Organizer: 第114回日本小児科学会学術集会
  • Place of Presentation: 東京都港区,グランドプリンスホテル新高輪国際館パミール
  • Year and Date: 2011-08-13
• [Presentation] 日本人におけるCharcot-Marie-Tooth病1A型重複について (2011)
  • Author(s): 阿部暁子
  • Organizer: 第114回日本小児科学会学術集会
  • Place of Presentation: 東京グランドプリンスホテル新高輪国際館パミール(東京都)
  • Year and Date: 2011-08-13
• [Presentation] Distal Hereditary Motor Neuiropathy VIの兄弟例 (2011)
  • Author(s): 中島正幸, 山下裕史郎, 永光信一郎, 大矢崇志, 原宗嗣, 渋谷郁彦, 松石豊次郎, 阿部暁子, 早坂清
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 横浜市,パシフィコ横浜
  • Year and Date: 2011-05-27
• [Presentation] Charcot-Maire-Tooth disease with pyramidal featuresの1家系 (2011)
  • Author(s): 友納優子, 藤田貴子, 児玉梨恵, 二之宮信也, 井原由紀子, 中村紀子, 井手口博, 井上貴仁, 阿部暁子, 早坂清, 安元佐和, 廣瀬伸一
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 横浜市,パシフィコ横浜
  • Year and Date: 2011-05-27
• [Presentation] 日本人Charcot-Maire-Tooth病の遺伝子診断と臨床像について (2010)
  • Author(s): 阿部暁子, 木島一己, 白幡惠美, 早坂清
  • Organizer: 第52回日本小児神経学会総
  • Place of Presentation: 福岡市,福岡国際会議場
  • Year and Date: 2010-05-22
• [Presentation] PMP22遺伝子欠失の複合へテロ接合体による遺伝性ニューローパチーの2家系 (2010)
  • Author(s): 阿部暁子, 中村和幸, 加藤光広, 沼倉周彦, 本間友美, 白幡惠美, 清和ちづる, 伊東愛子, 早坂清
  • Organizer: 第113回日本小児科学会学術集会
  • Place of Presentation: 盛岡市,盛岡市民文化ホール
  • Year and Date: 2010-04-23