シンポジウムセッション
- 第2日 5月16日（火） 09:35～09:55 A会場（特別会議場）
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2A-O-0935 PDF
LC/MS/MSを活用したニーマンピック病の診断バイオマーカー開発と病態分子機構解析研究
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.