Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defects

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
C AmaralM L Cardoso

Abstract

Cholesterol and its precursors, namely 7-dehydrocholesterol, desmosterol and lathosterol are important biochemical markers of cholesterol biosynthesis, and their quantification in body fluids is useful for the diagnosis of cholesterol biosynthesis pathway disorders. A rapid and sensitive gas chromatographic-mass spectrometric method was developed and validated for quantitative analysis of five sterols (cholesterol, 7-dehydrocholesterol, desmosterol, lathosterol and sitosterol) in amniotic fluid. The method was linear for all compounds (r(2)>0.99), and intra and inter-assay coefficients of variation were typically below 5%, and inaccuracy was within a +/-12% interval. The method was applied to 330 amniotic fluid samples, grouped by gestational age between 13 and 22 weeks of pregnancy, in order to establish reference intervals for sterols in this specimen. The obtained concentrations (mumol/L) for each sterol was as follows: 22.1758+/-4.2716 at 13 weeks and 78.5082+/-12.9041 at 22 weeks for cholesterol; 0.0039+/-0.0007 at 13 weeks and 0.1150+/-0.0212 at 22 weeks for 7-dehydrocholesterol; 0.1562+/-0.0406 at 13 weeks and 0.7691+/-0.0821 at 22 weeks for desmosterol; 0.0272+/-0.0035 at 13 weeks and 0.8551+/-0.1791 at 22 weeks for lat...Continue Reading

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Citations

Jun 26, 2012·American Journal of Obstetrics and Gynecology·Maria E BaardmanTorsten Plösch
Aug 13, 2011·Molecular and Cellular Biochemistry·Angela M AmoriniBarbara Tavazzi
Jun 18, 2018·Analytical and Bioanalytical Chemistry·Ksenia DerinaJiri Barek
Dec 19, 2018·Biomolecules·Spiro KhouryJustine Bertrand-Michel

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