Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
1651 - 1662
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This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid) and NPCBA2 (probably 3β,5α,6β-trihydroxycholanoyl-glycine), were observed to accumulate preferentially in NPC patients: median plasma concentrations of NPCBA1 and NPCBA2 were 40- and 10-fold higher in patients than in controls. However, NPCBA1 concentrations were normal in some patients because they carried a common mutation inactivating the GlcNAc transferase required for the synthesis of this bile acid. NPCBA2, not containing a GlcNAc moiety, is thus a better NPC biomarker.
AuthorsMazzacuva, F; Mills, P; Mills, K; Camuzeaux, S; Gissen, P; Nicoli, E-R; Wassif, C; Te Vruchte, D; Porter, FD; Maekawa, M; Mano, N; Iida, T; Platt, F; Clayton, PT
- College Publications