TY - JOUR
T1 - A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
AU - Boenzi, Sara
AU - Deodato, Federica
AU - Taurisano, Roberta
AU - Martinelli, Diego
AU - Verrigni, Daniela
AU - Carrozzo, Rosalba
AU - Bertini, Enrico
AU - Pastore, Anna
AU - Dionisi-Vici, Carlo
AU - Johnson, David W.
PY - 2014/11/1
Y1 - 2014/11/1
N2 - Two oxysterols, cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC), have been recently proposed as diagnostic markers of Niemann-Pick type C (NP-C) disease, representing a potential alternative diagnostic tool to the more invasive and time consuming filipin test in cultured fibroblasts. Usually, the oxysterols are detected and quantified by liquid chromatography-tandem mass spectrometry (LC-MS/MS) method using atmospheric pressure chemical ionization (APCI) or electro-spray-ionization (ESI) sources, after a variety of derivatization procedures to enhance sensitivity. We developed a sensitive LC-MS/MS method to quantify the oxysterols in plasma as dimethylaminobutyrate ester, suitable for ESI analysis. This method, with an easy liquid-phase extraction and a short derivatization procedure, has been validated to demonstrate specificity, linearity, recovery, lowest limit of quantification, accuracy and precision. The assay was linear over a concentration range of 0.5-200. ng/mL for C-triol and 1.0-200. ng/mL for 7-KC. Intra-day and inter-day coefficients of variation (CV%) were
AB - Two oxysterols, cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC), have been recently proposed as diagnostic markers of Niemann-Pick type C (NP-C) disease, representing a potential alternative diagnostic tool to the more invasive and time consuming filipin test in cultured fibroblasts. Usually, the oxysterols are detected and quantified by liquid chromatography-tandem mass spectrometry (LC-MS/MS) method using atmospheric pressure chemical ionization (APCI) or electro-spray-ionization (ESI) sources, after a variety of derivatization procedures to enhance sensitivity. We developed a sensitive LC-MS/MS method to quantify the oxysterols in plasma as dimethylaminobutyrate ester, suitable for ESI analysis. This method, with an easy liquid-phase extraction and a short derivatization procedure, has been validated to demonstrate specificity, linearity, recovery, lowest limit of quantification, accuracy and precision. The assay was linear over a concentration range of 0.5-200. ng/mL for C-triol and 1.0-200. ng/mL for 7-KC. Intra-day and inter-day coefficients of variation (CV%) were
KW - Dimethylaminobutyrate ester derivative
KW - Electrospray ionization analysis
KW - Liquid chromatography-tandem-mass spectrometry
KW - Niemann-Pick C disease
KW - Oxysterols
UR - http://www.scopus.com/inward/record.url?scp=84905216184&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84905216184&partnerID=8YFLogxK
U2 - 10.1016/j.cca.2014.07.010
DO - 10.1016/j.cca.2014.07.010
M3 - Article
C2 - 25038260
AN - SCOPUS:84905216184
VL - 437
SP - 93
EP - 100
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
ER -