オーラルセッション
- 第3日 5月17日(木) 10:20~10:40 C会場(星雲2)
-
3C-O1-M-1020 PDF
5種の尿中抱合型コレステロール代謝物同時分析法の開発とニーマンピック病C型診断性能の評価
Niemann-Pick disease type C is an autosomal recessive inherited disorder exhibiting various clinical symptoms and onset time. In this disease, development of a novel diagnostic method is desired. We have discovered several conjugated cholesterol metabolites which have been markedly increased in urine from this disease and have investigated the performance as a chemical diagnostic biomarker. In this study, we first constructed a method for simultaneous analysis of five diagnostic biomarker candidates using LC/ESI-MS/MS. Next, we performed validation of analysis method and verified that this method is excellent in reliability. In addition, diagnostic biomarker candidates in this disease patients urine were measured and compared with those in healthy volunteers, suggesting that one molecule, 3β-sulfooxy-7β-hydroxy-5-cholenoic acid, is extremely excellent in the diagnostic performance of this disease.