Mazzacuva, F;
Mills, P;
Mills, K;
Camuzeaux, S;
Gissen, P;
Nicoli, E-R;
Wassif, C;
... Clayton, PT; + view all
(2016)
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
FEBS Letters
, 590
(11)
pp. 1651-1662.
10.1002/1873-3468.12196.
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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.
| Type: | Article |
|---|---|
| Title: | Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/1873-3468.12196 |
| Publisher version: | http://dx.doi.org/10.1002/1873-3468.12196 |
| Language: | English |
| Additional information: | © 2016 The Authors. FEBS Letters published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Biophysics, Cell Biology, bile acids, Biomarkers, GlcNAc transferase, Niemann-Pick C, screening, UPLC-MS/MS, CHOLESTEROL TRAFFICKING, MAJOR METABOLITES, ESTERIFICATION, MIGLUSTAT, DISORDER, PATIENT, DEFECT, GENE, MICE |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1489921 |
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