日本質量分析学会 第66回質量分析総合討論会

プログラム

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)

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

(1東北大病薬2東北大薬3鳥取大病)
o前川正充1神納勇2成田綾3山口浩明1,2眞野成康1,2

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.