Method to screen for cholesterol or bile acid disorders with MS/MS.
OHSU # 1186
Method to screen for cholesterol or bile acid disorders with tandem mass spectrometry
Liquid chromatography tandem mass spectrometry (LC-MS/MS) method to screen for genetic disorders of cholesterol or bile acid synthesis. The LC-MS/MS methodology sensitively detects altered sterols in population-based filter-paper bloodspot samples from individuals affected with disorders such as Smith-Lemli-Optiz syndrome (SLOS), familial hypercholesterolaemia (FH), and cerebrotendinous xanthomatosis (CTX) allowing discrimination between affected and unaffected individual samples. LC-MS/MS offers advantages over gas chromatography-MS, the current technique of choice for biochemical diagnosis of these disorders. Rapid analysis of very small volumes of plasma or blood with a workflow amenable to automation is now possible.
Robert Steiner MD is a board certified clinical biochemical geneticist, and an expert in cholesterol and bile acid metabolic disorders. Dr. Steiner serves on the Standing Committee for the Newborn Screening Translational Research Network, and was a member of the ACMG Expert Committee that recommended expansion of newborn screening. He consults for the Northwest Regional Newborn Screening Program, and has published extensively on cholesterol disorders, newborn screening, and metabolic diseases.
Andrea DeBarber PhD is the Associate Director of the Bioanalytical Shared Resource Facility, where her responsibilities include development of LC-tandem mass spectrometry (MS/MS) methods for quantification of drugs and metabolite ID, as well as the analysis of endogenous steroids, sterols, lipids and thyroid hormone analogues. She also oversees the use of high-resolution LC-MS/MS instrumentation as Director of a Bioanalytical MS Facility at Portland State University In addition, Dr DeBarber is a Research Assistant Professor, School of Medicine, where she performs independent research characterizing biochemical pathways in patients with deficient cholesterol and bile acid synthesis. In 2010 she was awarded a training fellowship through the Rare Disease Clinical Research Network Sterol & Isoprenoid Diseases (STAIR) consortium and in 2011 was awarded an NIH KL2 career development award.
DeBarber AE et al, ESI-MS/MS quantification of 7a-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. Clinica Chimica Acta 2010 411:43-48.
DeBarber AE et al, Smith-Lemli-Optiz syndrome. Expert Reviews in Molecular Medicine 2011 13;e24:1-18.
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