A novel cell-based functional diagnosis for the patients with mitochondrial disorders

• Project/Area Number: 20790760
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: HATAKEYAMA Hideyuki National Center of Neurology and Psychiatry, 神経研究所疾病研究第二部, 流動研究員 (70466225)
• Project Period (FY): 2008 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: ミトコンドリア病 / 患者由来培養細胞 / 生化学診断 / 綱羅的・体系的機能診断 / 患者組織由来細胞 / 生化学的機能解析 / ミトコンドリア生合成系

Research Abstract

I established the methodology to characterize the phenotypic differences in the patients with mitochondrial diseases by using a systematic molecular and protein analysis in mitochondrial electron transport components and a comprehensive functional analysis in mitochondria and cells. This methodology would be available not only for investigating the actual molecular pathogenesis in various mitochondrial diseases caused by newly found mutations, but also for applications in evidence-based therapeutics according to the pathogenic features and the clinical symptoms of the patients.

Research Products

• [Journal Article] Reversible infantile respiratory chain deficiency: a clinical and molecular study (2010)
  • Author(s): Masakazu Mimaki, Hideyuki Hatakeyama, 他8名
  • Journal Title: Annals of Neurology、Accepted
  • Peer Reviewed
• [Journal Article] Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders (2009)
  • Author(s): Masakazu Mimaki, Hideyuki Hatakeyama, 他9名
  • Journal Title: Mitochondrion 9(2) Pages: 115-122
  • Peer Reviewed
• [Journal Article] Different effects of novel mtDNA G3242A and G3244A base changes adjacent toa common A3243G mutation in patients with mitochondrial disorders (2009)
  • Author(s): Masakazu Mimaki,Hideyuki Hatakeyama, et al.
  • Journal Title: Mitochondrion 9 Pages: 115-122
  • Peer Reviewed
• [Presentation] COX欠損症により支配される重篤なミトコンドリア機能傷害 (2009)
  • Author(s): 畠山英之・澤佳世・喜多俊二・後藤雄一
  • Organizer: 第9回日本ミトコンドリア学会年会
  • Place of Presentation: 東京大学鉄門講堂
  • Year and Date: 2009-12-18
• [Presentation] COX欠損症により支配される重篤なミトコンドリア機能傷害 (2009)
  • Author(s): 畠山英之・澤佳世・喜多俊二・後藤雄一
  • Organizer: 第9回日本ミトコンドリア学会年会
  • Place of Presentation: 東京大学鉄門講
  • Year and Date: 2009-12-18
• [Presentation] Functional threshold in mitochondria with cytochrome c oxidase deficiency: A cell-based diagnostic approach for mitochondrial diseases (2009)
  • Author(s): Hideyuki Hatakeyama, Kayo Sawa, Yu-ichi Goto
  • Organizer: The 6th Conference of Asian Society for Mitochondrial Research and Medicine
  • Place of Presentation: Taipei Medical University, TAIWAN
  • Year and Date: 2009-10-31
• [Presentation] Functional threshold in mitochondria with cytochrome c oxidase deficiency : A cell-based diagnostic approach for mitochondrial diseases (2009)
  • Author(s): Hideyuki Hatakeyama, Kayo Sawa, Yu-ichi Goto
  • Organizer: The 6th Conference of Asian Society for Mitochondrial Research and Medicine
  • Place of Presentation: Taipei Medical University, Taipei, TAIWAN
  • Year and Date: 2009-10-31
• [Presentation] A systematic cell-based analysis for the patients with cytochrome c oxidase deficiency (2009)
  • Author(s): Hideyuki Hatakeyama, Kayo Sawa, Yu-ichi Goto
  • Organizer: The 59th Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Hawaii Convention Center, USA
  • Year and Date: 2009-10-23
• [Presentation] A systematic cell-based analysis for the patients with cytochrome c oxidase Deficiency (2009)
  • Author(s): Hideyuki Hatakeyama, Kayo Sawa, Yu-ichi Goto
  • Organizer: The 59th Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Hawaii Convention Center, Honolulu, Hawaii, USA
  • Year and Date: 2009-10-23
• [Presentation] 新規に発見されたtRNA-Trp遺伝子中のc5541t変異は、ミトコンドリアの機能傷害を伴う細胞レベルでの重篤な表現型を示す (2008)
  • Author(s): 畠山英之・小牧宏文・後藤雄一
  • Organizer: 第8回日本ミトコンドリア学会年会
  • Place of Presentation: 東京女子医科大学弥生講堂
  • Year and Date: 2008-12-18
• [Presentation] 培養筋芽細胞によるCytochrome c oxidase欠損症の機能診断 (2008)
  • Author(s): 畠山英之・後藤雄一
  • Organizer: 第31回日本分子生物学会年会
  • Place of Presentation: 神戸ポートアイランド
  • Year and Date: 2008-12-12
• [Presentation] 培養筋芽細胞によるCytochrome coxidase欠損症の機能診断 (2008)
  • Author(s): 畠山英之・後藤雄一
  • Organizer: 第31回日本分子生物学会年会
  • Place of Presentation: 神戸ポートアイランド
  • Year and Date: 2008-12-12
• [Presentation] Two mutations at the opposite sites in anticodon stem of mitochondrial tRNA-Trp gene cause different phenotypes on cytochrome c oxidase activity (2008)
  • Author(s): Hideyuki Hatakeyama, Hirofumi Komaki, Yu-ichi Goto
  • Organizer: The 58th Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Pennsylvania Convention Center, USA
  • Year and Date: 2008-11-12
• [Presentation] Two mutations at the opposite sites in anticodon stem of mitochondrial tRNA-Trp gene cause different phenotypes on cytochrome coxidase activity (2008)
  • Author(s): Hideyuki Hatakeyama, Hirofumi Komaki, Yu-ichi Goto
  • Organizer: The 58th Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Pennsylvania Convention Center, USA
  • Year and Date: 2008-11-12