ポスター発表
- 第2日 6月23日（木） P会場（501，502，503）
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2P-03 PDF
リピドミクスによるAbcd1ノックアウトマウス脳中脂質プロファイリング
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by mutations in genes encoding peroxisomal Abcd1 protein. Functional deficiency of Abcd1 cause the accumulation of very long chain fatty acid (VLCFA) in the body, which result in the demyelination of the central nervous system and adrenal insufficiency. Although total VLCFA levels in blood have been used to diagnose X-ALD, they do not correlate with its clinical CNS symptoms, and it is not clear which lipid classes is involved in the pathogenesis. In the present study, we performed a comprehensive lipidomics analysis of lipids in the brain of Abcd1 knockout mice, an animal model of X-ALD, to obtain profiling data for the identification of potent biomarkers that correlate with the disease symptoms. Total lipids in the brains of Abcd1 knockout and wild-type mice were extracted using the Bligh-Dyer method, and lipidomic analysis was performed using liquid chromatography-triple quadrupole mass spectrometry (LC-TQMS) and -Orbitrap mass spectrometry (LC-Orbitrap MS). In addition, we performed quantitative analysis of the most promising biomarker candidates by LC-TQMS.