Oral Sessions
- Day 3, May 13（Wed.） 10:05-10:25 Room A (Main Hall)
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3A-O10-1005 PDF
Structural determination of lysosphingomyelin-509 and development of diagnostic method for Niemann-Pick disease type C
Niemann-Pick disease type C (NPC) is an autosomal recessive disease. Since early treatment affects the prognosis, early diagnosis is important. However, diagnosis of NPC is difficult due to variety of the symptoms and age of onset. In addition, the conventional tests has some problems. Therefore, we focused on lysosphingomyelin-509 and aimed to identify it as a biomarker for NPC. The functional group and the partial structure were speculated by chemical derivatizations and hydrogen attachment/abstraction dissociation MS/MS. Lysosphingomyelin-509 was speculated as N-palmitoyl-O-phosphocholine-serine (PPCS). The results of synthesized PPCS agreed with those of lysosphingomyelin-509 completely. Finally, we succeeded to identify lysosphingomyelin-509 as PPCS. Serum/plasma PPCS concentration in NPC patients was significantly higher than in healthy subjects and the patients of other lysosomal diseases. Next, a rapid analysis method of PPCS and sphingosylphosphorylcholine (SPC) for NPC screening was developed. A method within 1.2 min/run was developed. The concentrations of PPCS and SPC analyzed by this method correlated with those of by the validated method. In addition, it was suggested that the combination of PPCS and SPC might be useful for discrimination of NPC from NP-A/B. Currently, we are continuing to analyze the metabolic pathway and physiological significance of PPCS.