The Mass Spectrometry society of Japan - The 71st Annual Conference on Mass Spectrometry, Japan
Japanese

Abstract

Table of contents

Timetable

Plenary Lecture

Symposium Sessions (Day1, Day2, Day3)

Basic Sessions (Day1, Day2, Day3)

Young Researchers' Sessions (Day1, Day2, Day3)

Poster Presentations (Day1, Day2, Day3)

Special Evening Sessions

Corporate Program

Symposium Sessions

Day 2, May 16（Tue.）　09:35-09:55　Room A (Special Conference Room)

2A-O-0935　　PDF

Development of biomarkers and metabolic alteration analysis for Niemann–Pick disease type C using liquid chromatography/tandem mass spectrometry

(1Tohoku Univ. Hosp., 2Tohoku Univ., 3Tohoku Univ.)
oMasamitsu Maekawa1,2,3, Keitaro Miyoshi2, Masahiro Watanabe3, Nariyasu Mano1,2,3

Niemann-Pick disease type C (NPC) is an autosomal recessive disorder that lacks cholesterol transport function. We have been working to identify biomarker candidate molecules and a simple and rapid diagnostic method. Using liquid chromatography/tandem mass spectrometry (LC/MS/MS), we developed the quantitative methods for conjugated cholesterol metabolites that exhibited strong diagnostic marker performance. We also identified lysosphingomyelin-509 as a potential blood biomarker for NPC and developed a simultaneous analysis method for sphingosylphosphocholine and N-palmitoyl-O-phosphocholine-serine to differentiate between Niemann-Pick disease types A/B (NPA/B) and NPC.
We also conducted global proteome and metabolome analyses of NPC model cells and investigated steroid hormone homeostasis to gain a deeper understanding of the pathophysiology of NPC. Six steroid hormones were found to significantly decrease in NPC model cells, indicating a potential link between steroid hormone levels and NPC pathophysiology.
Overall, we have conducted a comprehensive search for NPC biomarkers in urine and blood using LC/MS/MS and verified their diagnostic performance. We have also gained a deeper understanding of the molecular mechanisms and pathophysiology involved in NPC and will continue to identify and characterize novel therapeutic targets for the treatment of NPC.