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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

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‐trihydroxychola...

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Detalles Bibliográficos
Autores principales: Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, te Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089630/
https://www.ncbi.nlm.nih.gov/pubmed/27139891
http://dx.doi.org/10.1002/1873-3468.12196
Descripción
Sumario: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.