| 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)
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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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