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

Francesca Mazzacuva, Philippa Mills, Kevin Mills, Stephane Camuzeaux, Paul Gissen, Elena Raluca Nicoli, Christopher Wassif, Danielle te Vruchte, Forbes D. Porter, Masamitsu Maekawa, Nariyasu Mano, Takashi Iida, Frances Platt, Peter T. Clayton

Research output: Contribution to journalArticlepeer-review

61 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1651-1662
Number of pages12
JournalFEBS Letters
Publication statusPublished - 2016 Jun 1


  • Biomarkers
  • GlcNAc transferase
  • Niemann-Pick C
  • bile acids
  • screening

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology


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