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  • Title: Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
    Author: Mazzacuva F, Mills P, Mills K, Camuzeaux S, Gissen P, Nicoli ER, Wassif C, Te Vruchte D, Porter FD, Maekawa M, Mano N, Iida T, Platt F, Clayton PT.
    Journal: FEBS Lett; 2016 Jun; 590(11):1651-62. PubMed ID: 27139891.
    Abstract:
    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.
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