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Diagnosis and treatment in the new mitochondrial dysfunction causing to Leigh syndrome

Research Project

Project/Area Number 18591155
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionThe University of Tokushima

Principal Investigator

NAITO Etsuo  The University of Tokushima, 大学院・ヘルスバイオサイエンス研究部, 非常勤講師 (30227706)

Project Period (FY) 2006 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥3,930,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥630,000)
Fiscal Year 2009: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2008: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2007: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2006: ¥1,200,000 (Direct Cost: ¥1,200,000)
Keywords脳・神経 / Leigh脳症 / 高乳酸血症 / 高ピルビン酸血症 / ミトコンドリア機能 / ミトコンドリアDNA異常症 / ジクロロ酢酸ナトリウム / ビタミンB1 / 高乳酸血漿 / 蛋白質
Research Abstract

Leigh syndrome is a neurodegenerative disease caused by defects in mitochondrial energy generation with onset typically in infancy. We investigated defects of pyruvate metabolisim in 74 Japanese patients with Leigh syndrome. Defects identified in 37 patients (50%), i.e., PDHC deficiency in 5, NADH-cytochrome c reductase (complex I) deficiency in 4, cytochrome c oxidase (COX) deficiency in 4, and a point mutation of mitochondrial DNA in 24. One patient had the new mitochondrial dysfunction with decreased pyruvate decarboxylation rate.

Report

(6 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report   Self-evaluation Report ( PDF )
  • 2007 Annual Research Report
  • 2006 Annual Research Report
  • Research Products

    (27 results)

All 2009 2008 2007 2006

All Journal Article (13 results) (of which Peer Reviewed: 5 results) Presentation (14 results)

  • [Journal Article] Treatment for Leigh syndrome by monitoring dichloroacetate concentration2009

    • Author(s)
      Masafumi Morimoto, Akira Nishimura, Etsuo Naito, TohrunSugimoto
    • Journal Title

      Pediatrics International Vol51

      Pages: 293-312

    • NAID

      10028180274

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] 高乳酸ピルビン酸血症2009

    • Author(s)
      肉藤悦雄
    • Journal Title

      小児内科 41

      Pages: 369-375

    • Related Report
      2009 Final Research Report
  • [Journal Article] Treatment for Leigh syndrome by monitoring dichloroacetate concentration2009

    • Author(s)
      Naito E, et al.
    • Journal Title

      Pediatrics International 51

      Pages: 293-295

    • NAID

      10028180274

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 高乳酸・ピルビン酸血症2009

    • Author(s)
      内藤悦雄
    • Journal Title

      小児内科 41

      Pages: 369-375

    • Related Report
      2009 Annual Research Report
  • [Journal Article] Serial brain imaging analysis of stroke-like episodes in mus2008

    • Author(s)
      Hiromichi Ito, Kenji Mori, Masafumi Harada, Masako Minato, Etsuo Naito, Mayumi Takeuchi, Yasuhiro Kuroda, Shoji Kagami
    • Journal Title

      Vol30

      Pages: 483-488

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Developpment of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan2008

    • Author(s)
      Go Tajima, Nobuo Sakura, Kenichiro Shirao, Satoshi Okada, Miyuki Tsumura, Yutaka Nishimura, Hiroaki Ono, Yuki Hasegawa, Ikue Hata, Etsuo Naito, Seiji Yamaguchi, Yosuke Shigematsu, Nasao Kobayashi
    • Journal Title

      Pediatric Research Vol64.No6

      Pages: 667-672

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease2008

    • Author(s)
      Hiromichi Ito, Kenji Mori, Miho Sakata, Etsuo Naito, Masafumi Harada, Masako Minato, Hiroko Kodama, Yan-Hong Gu, Yasuhiro Kuroda, Shoji Kagami
    • Journal Title

      Vol30

      Pages: 483-488

    • NAID

      10025345698

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] タンデム質量計による新生児マス・スクリーニングが早期発見・治療に有用であったグルタル酸血症I型女児例2008

    • Author(s)
      内藤悦雄
    • Journal Title

      特殊ミルク情報 44

      Pages: 9-12

    • Related Report
      2009 Final Research Report 2008 Self-evaluation Report
  • [Journal Article] タンデム質量分析計による新生児マス・スクリーニングが早期発見・治療に有用であったグルタル酸血症I型女児例2008

    • Author(s)
      内藤 悦雄
    • Journal Title

      特殊ミルク情報 44

      Pages: 9-12

    • Related Report
      2008 Annual Research Report
  • [Journal Article] ミトコンドリア異常症2007

    • Author(s)
      内藤悦雄
    • Journal Title

      小児内科増刊号 39

      Pages: 529-532

    • Related Report
      2009 Final Research Report 2008 Self-evaluation Report
  • [Journal Article] ミトコンドリア異常症2007

    • Author(s)
      内藤 悦雄
    • Journal Title

      小児内科増刊号 39

      Pages: 529-532

    • Related Report
      2007 Annual Research Report
  • [Journal Article] 代謝性アシドーシスの治療2006

    • Author(s)
      内藤悦雄
    • Journal Title

      小児科診療 69

      Pages: 684-1689

    • Related Report
      2009 Final Research Report
  • [Journal Article] ブドウ糖負荷試験2006

    • Author(s)
      内藤悦雄
    • Journal Title

      小児内科 38

      Pages: 1475-1177

    • Related Report
      2009 Final Research Report 2008 Self-evaluation Report
  • [Presentation] 徳島県におけるタンデムマスによる新生児マススクリーニングの10年間の経過2009

    • Author(s)
      内藤悦雄, 大山江里子, 小谷裕美子, 香美祥二, 重松陽介
    • Organizer
      第133回目本小児科学会徳島地方会
    • Place of Presentation
      徳島
    • Year and Date
      2009-12-06
    • Related Report
      2009 Final Research Report
  • [Presentation] Defects of pyruvate metabolism in cultured lymphoblastoid cells from 70 Japanese patients with Leigh syndrome.2009

    • Author(s)
      Etsuo Naito, T. liashimoto, Y. Kotani, S. Kagami
    • Organizer
      59th American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii
    • Year and Date
      2009-10-23
    • Related Report
      2009 Final Research Report
  • [Presentation] Defects of pyruvate metabolism in cultured lymphoblastoid cells from 70 Japanese patients with Leigh syndrome2009

    • Author(s)
      Etsuo Naito
    • Organizer
      The American Society of Human Genetics
    • Place of Presentation
      ハワイ コンベンションセンター(ホノルル)
    • Year and Date
      2009-10-23
    • Related Report
      2009 Annual Research Report
  • [Presentation] 日本人105例のピルビン酸脱水素酵素複合体異常症の酵素診断遺伝子診断とその臨床像2009

    • Author(s)
      内藤悦雄, 西村美緒, 島川清司, 橋本俊顕, 小谷裕美子, 香美祥二
    • Organizer
      日本小児神経学会総会
    • Place of Presentation
      米子
    • Year and Date
      2009-05-29
    • Related Report
      2009 Final Research Report
  • [Presentation] 最近4年間で遺伝子診断した先天代謝異常症30例の臨床像2008

    • Author(s)
      内藤悦雄, 小谷裕美子, 香美祥二, 重松陽介
    • Organizer
      第131回日本小児科学会徳島地方会
    • Place of Presentation
      徳島
    • Year and Date
      2008-12-07
    • Related Report
      2009 Final Research Report
  • [Presentation] 培養細胞のピルビン酸脱水素酵素複合体活性が正常でE1αサブユニット遺伝子変異を有していた15女児例の臨床像2008

    • Author(s)
      内薩悦雄, 西村美緒, 島川清司, 小谷裕美子, 香美祥二
    • Organizer
      日本小児神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-29
    • Related Report
      2009 Final Research Report 2008 Annual Research Report 2008 Self-evaluation Report
  • [Presentation] 死亡6年後に確定診断ができたピルビン酸脱水素酵素欠損症の1男児例2007

    • Author(s)
      内藤悦雄, 奥村恵子, 小谷裕美子, 品原久美, 香美祥二
    • Organizer
      第131回日本小児科学会徳島地方会
    • Place of Presentation
      徳島
    • Year and Date
      2007-12-09
    • Related Report
      2009 Final Research Report
  • [Presentation] Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in 70 Japanese patients with a pyruvate dehydrogenase complex deficiency.2007

    • Author(s)
      Etsuo Naito, T. Hashimoto, Y. Kotani, S. Kagami
    • Organizer
      57th American Society of Human Genetics
    • Place of Presentation
      San Diego CA.
    • Year and Date
      2007-10-25
    • Related Report
      2009 Final Research Report
  • [Presentation] ジクロロ酢酸ナトリウム療法を13年間続けたG291R変異を有したピルビン酸脱水素酵素欠損症の1女児例2007

    • Author(s)
      内藤悦雄, 西村美緒, 島川清司
    • Organizer
      日本小児神経学会総会
    • Place of Presentation
      大阪
    • Year and Date
      2007-07-06
    • Related Report
      2009 Final Research Report 2008 Self-evaluation Report 2007 Annual Research Report
  • [Presentation] ジクロロ酢酸ナトリウム療法を14年間継続し得たピルビン酸脱水素酵素欠損症の1女児例2007

    • Author(s)
      内藤悦雄, 西村美緒, 島川清司, 中川竜二
    • Organizer
      第129回日本小児科学会徳島地方会
    • Place of Presentation
      徳島
    • Year and Date
      2007-06-09
    • Related Report
      2009 Final Research Report
  • [Presentation] Defects of pyruvate metabolism in cultured lymphoblastoid cells from 64 Japanese patients with Leigh syndrome.2007

    • Author(s)
      Etsuo Naito, T. Hashimoto, Y. Kotani, S. Kagami
    • Organizer
      9th Asian Oceanian Congress of Child Neurology
    • Place of Presentation
      Cebu City, Philippines
    • Year and Date
      2007-01-26
    • Related Report
      2009 Final Research Report
  • [Presentation] チロシン血症III型と思われる1女児例2006

    • Author(s)
      内藤悦雄, 小谷裕美子, 品原久美, 香美祥二
    • Organizer
      第127回日本小児科学会徳島地方会
    • Place of Presentation
      徳島
    • Year and Date
      2006-12-06
    • Related Report
      2009 Final Research Report
  • [Presentation] Biochemical and molecular analysis of 14 patients with thiamin-responsive pyruvate dehydrogenase deficiency.2006

    • Author(s)
      Etsuo Naito, T. Hashimoto, Y. Kotani, S. Kagami
    • Organizer
      56th American Society of Human Genetics
    • Place of Presentation
      New Orleans, LA
    • Year and Date
      2006-10-10
    • Related Report
      2009 Final Research Report
  • [Presentation] タンデムマス質量分析計による新生児マススクリーニングで発見されたメチルマロン酸血症の1女児例2006

    • Author(s)
      内藤悦雄, 小谷裕美子, 品原久美, 香美祥二, 重松陽介, 但馬剛
    • Organizer
      第126回日本小児科学会徳島地方会
    • Place of Presentation
      徳島
    • Year and Date
      2006-06-17
    • Related Report
      2009 Final Research Report

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Published: 2006-04-01   Modified: 2016-04-21  

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