Search for modifier factors of adrenoleukodystrophy phenotypes using whole exome sequencing

• Project/Area Number: 15H06160
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: The University of Tokyo
• Principal Investigator: Matsukawa Takashi 東京大学, 医学部附属病院, 学術支援専門職員 (80755760)
• Project Period (FY): 2015-08-28 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000); Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 遺伝子表現型連関 / 副腎白質ジストロフィー / ABCD1 / 表現型修飾因子 / Exome解析

Outline of Final Research Achievements

Adrenoleukodystrophy (ALD) is an X-linked recessive neurodegenerative disorder caused by ABCD1 gene. We searched for modifier factors of various ALD phenotypes using whole exome sequencing. We accumulated eighty one ALD patients' DNA. We analyzed genes localized in the peroxisome where ABCD1 gene product is also localized. We found that there were many cases that have novel variants of genes localized in the peroxisome. Our findings will become the base for the elucidation of modifier factors of various ALD phenotypes.

Research Products

• [Journal Article] 次世代シークエンサーによるパーソナルゲノム解析の基礎. (2016)
  • Author(s): 松川敬志, 石浦浩之, 三井純, 辻省次
  • Journal Title: 分子精神医学 Volume: 16 Pages: 11-17
• [Journal Article] 白質ジストロフィーに対する造血幹細胞移植 (2016)
  • Author(s): 松川敬志
  • Journal Title: Clinical Neuroscience Volume: 34 Pages: 1091-1093
• [Presentation] Case Studies in Clinical Genetics, 18 year-old male who presented with the subacute onset of loss of motivation, dysarthria and ataxia (2016)
  • Author(s): Takashi Matsukawa
  • Organizer: 13th International Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center
  • Int'l Joint Research / Invited
• [Presentation] Hematopoietic stem cell transplantation for adolescent and adult onset cerebral X-linked adrenoleukodystrophy (2016)
  • Author(s): Takashi Matsukawa
  • Organizer: 13th International Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center
  • Int'l Joint Research
• [Presentation] Hematopoietic stem cell transplantation for adolescent and adult onset cerebral adrenoleukodystrophy (2016)
  • Author(s): Takashi Matsukawa
  • Organizer: 第57回日本神経学会学術大会
  • Place of Presentation: 神戸国際展示場
• [Presentation] Hematopoietic Stem Cell Transplantation for Adolescent/Adult Cerebral and Olivo-Ponto-Cerebellar Adrenoleukodystrophy (2016)
  • Author(s): Takashi Matsukawa
  • Organizer: American Neurological Association’s (ANA) 2016 Annual Meeting
  • Place of Presentation: Baltimore Marriott Waterfront Hotel
  • Int'l Joint Research