| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Outline of Final Research Achievements |
We have established diagnostic system for the patients with adrenoleukodystrophy (ALD), using combined GC/MS and UPLC/MS, and diagnosed 49 male patients with ALD, including 21 with childhood cerebral form, 2 with adolescent cerebral form, 6 with adult cerebral form, 6 with adrenomyeloneuropathy, 2 with cerebello-brainstem form, 4 with Addison form and 8 with presymptomatic, and 41 female carriers. In order to elucidate the regulatory factors of various phenotypes in ALD, we have established multiple analysis system, which consists of lipidomics by LC/MS/MS and transcriptomics by microarray, using bio-resource from different phenotypes of ALD patients and ABCD1-deficient mice. We identify several factors related to phenotypes, and verify the relation, using a large number of samples from the patients.
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