MSACL 2019 US Abstract

Self-Classified Topic Area(s): Lipidomics

Sterol Profile Analysis for Cholesterol Biosynthesis Disorders by Label-Free LC-MS/MS

Matthew Nichols, PhD and Dr. Murray Potter, MD, CCMG
McMaster Children’s Hospital, 1200 Main St. W, Hamilton, ON, Canada

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Matthew Nichols (Presenter)
Post- Doctoral Fellow

Presenter Bio: Matthew Nichols is a post-doctoral fellow working on the development of LC-MS/MS based methods for cholesterol biosyntehsis disorders in the biochemical genetics lab at McMaster Childrens Hospital. Matthew Obtained his PhD in pharmacology from Dalhousie University studying neuronal mitochondrial metabolism. Mathhew received his MSc in Chemistry from Wilfrid Laurier University where he studied protein/peptide-lipid interactions. Matthew obtained his BSc in biochemistry from Wilfrid Laurier University.

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Abstract

Disorders of cholesterol biosynthesis are routinely diagnosed by GC-MS and involve time consuming derivatization steps. Here, we present a label-free LC-MS/MS method for the quantitation of 7-DHC (LLOQ ~ 1 um), 8-DHC (LLOQ ~ 1 um), desmosterol (LLOQ ~ 1 um), lanosterol (LLOQ ~ 1 um), sitosterol (LLOQ ~ 1 um), cholestanol (LLOQ ~ 1 um) within a single run. Assay Imprecision was <10-20%. The Assay has been cross validated against external quality control samples exhibiting +/- 10% accuracy of consensus values. Additionally, the method has been validated across a cohort of controls, 6 CTX and 5 SLOS patients.