受賞講演
- 第2日 6月23日（木） 18:30～18:50 A会場（メインホール）
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2A-AW-1830 PDF
質量分析を活用したニーマンピック病バイオマーカー候補分子の構造決定と性能評価
Niemann-Pick disease type C (NPC) is an autosomal recessive disorder with progressive neuronal degradation. The onset age of NPC varies from perinatal to adulthood and the patients provide the various symptoms. Therefore, it is difficult to discover and diagnosis NPC. The conventional laboratory tests are complicated and takes long time for the result. From those background, we have researched NPC biomarkers based on liquid chromatography/tandem mass spectrometry (LC/MS/MS) and the related techniques.
For finding biomarker candidates, we used various scan analysis, such as MS/MS scanning (e.g., precursor ion scanning and neutral loss scanning), and high-resolution mass spectrometry. Structural speculation was performed with the LC retention, MS/MS fragmentation (containing hydrogen abstraction/attachment dissociation-MS/MS), and chemical derivatization. Identification was performed with matching peaks between human specimen and authentic standards. Diagnostic performance evaluation was performed with the validated LC/MS/MS method which we developed and the applications for human specimens, controls (e.g., healthy subjects) and samples (e.g., NPC patients). In so far, we have found promising biomarker candidate molecules from noninvasively collectable urine and the most commonly used blood for testing. In my presentation, our study for NPC biomarkers using various mass spectrometry will be reviewed.