2009 Fiscal Year Final Research Report
Diagnosis and treatment in the new mitochondrial dysfunction causing to Leigh syndrome
| Project/Area Number |
18591155
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | The University of Tokushima |
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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)
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| Project Period (FY) |
2006 – 2009
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| 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 |
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| 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.
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[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
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Journal Title
Pediatric Research Vol64.No6
Pages: 667-672
Peer Reviewed
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