Program

Oral Sessions

Day 3, May 17（Thu.）　10:20-10:40　Room C (Seiun 2)

3C-O1-M-1020　　PDF

Development of a simultaneous analytical method of five urinary conjugated cholesterol metabolites and its diagnostic performance evaluation of Niemann-Pick disease type C

(¹Tohoku Univ. Hosp., ²Tohoku Univ., ³Tottori Univ. Hosp.)
^oMasamitsu Maekawa¹, Isamu Jinnoh², Aya Narita³, Hiroaki Yamaguchi^1,2, Nariyasu Mano^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.