ESI-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis

Clinica Chimica Acta

Volumn 411, Issue 1-2, 2010, Pages 43-48

  DeBarber, Andrea E ^a   Connor, William E ^b   Pappu, Anuradha S ^b   Merkens, Louise S ^c   Steiner, Robert D ^c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

7 Hydroxy 4 cholestene 3 one; Bile acids; Cataracts; Chenodeoxycholic acid; Cholestanol; Derivatization; Diagnostic; Girard reagent; Plasma; Xanthoma

Indexed keywords

7ALPHA HYDROXYCHOLEST 4 EN 3 ONE; CHOLESTANOL; EPICHOLESTANOL; STEROL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DERIVATIZATION; DIAGNOSTIC TEST; ELECTROSPRAY MASS SPECTROMETRY; HUMAN; ISOTOPE DILUTION ASSAY; LIPID ANALYSIS; LIPID BLOOD LEVEL; LIQUID CHROMATOGRAPHY; PRIORITY JOURNAL; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

CHOLESTENONES; CHROMATOGRAPHY, LIQUID; HUMANS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 70449532994     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.09.036     Document Type: Article

References (27)

1. Salen G., Shefer S., and Berginer V.M. Biochemical abnormalities in cerebrotendinous xanthomatosis. Dev Neurosci 13 (1991) 363-370
2. Bjorkhem I., Muri Boberg K., and Leitersdorf E. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. OMMBID (2001) 2961-2988 Chapter 123
3. Menkes J.H., Schimschock J.R., and Swanson P.D. Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system. Arch Neurol 19 (1968) 47-53
4. Salen G., Meriwether T.W., and Nicolau G. Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. Biochem Med 14 (1975) 57-74
5. Berginer V.M., Salen G., and Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311 (1984) 1649-1652
6. Mondelli M., Sicurelli F., Scarpini C., Dotti M.T., and Federico A. Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci 190 (2001) 29-33
7. Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med 75 (1971) 843-851
8. Seyama Y., Ichikawa K., and Yamakaw T. Quantitative determination of cholestanol in plasma with mass fragmentography. Biochemical diagnosis of cerebrotendinous xanthomatosis. J Biochem 80 (1976) 223-228
9. Salen G., Shefer S., and Tint G.S. Transformation of 4-cholesten-3-one and 7 alpha-hydroxy-4-cholesten-3-one into cholestanol and bile acids in cerebrotendinous xanthomatosis. Gastroenterology 87 (1984) 276-283
10. Bjorkhem I., Skrede S., Buchmann M.S., East C., and Grundy S. Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4, 6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. Hepatology 7 (1987) 266-271
11. Skrede S., Buchmann M.S., and Bjorkhem I. Hepatic 7 alpha-dehydroxylation of bile acid intermediates, and its significance for the pathogenesis of cerebrotendinous xanthomatosis. J Lipid Res 29 (1988) 157-164
12. Bjorkhem I., Oftebro H., Skrede S., and Pedersen J.I. Assay of intermediates in bile acid biosynthesis using isotope dilution-mass spectrometry: hepatic levels in the normal state and in cerebrotendinous xanthomatosis. J Lipid Res 22 (1981) 191-200
13. Honda A., Salen G., Matsuzaki Y., et al. Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX. J Lipid Res 42 (2001) 291-300
14. Clayton P.T., Verrips A., Sistermans E., Mann A., Mieli-Vergani G., and Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis 25 (2002) 501-513
15. Skrede S., Bjorkhem I., Buchmann M.S., Hopen G., and Fausa O. A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis. J Clin Invest 75 (1985) 448-455
16. Shackleton C.H., Chuang H., and Kim J. de lT, X, Segura J. Electrospray mass spectrometry of testosterone esters: potential for use in doping control. Steroids 62 (1997) 523-529
17. Galman C., Arvidsson I., Angelin B., and Rudling M. Monitoring hepatic cholesterol 7alpha-hydroxylase activity by assay of the stable bile acid intermediate 7alpha-hydroxy-4-cholesten-3-one in peripheral blood. J Lipid Res 44 (2003) 859-866
18. Lovgren-Sandblom A., Heverin M., Larsson H., et al. Novel LC-MS/MS method for assay of 7alpha-hydroxy-4-cholesten-3-one in human plasma. Evidence for a significant extrahepatic metabolism. J Chromatogr B Analyt Technol Biomed Life Sci 856 (2007) 15-19
19. Merkens L.S., Jordan J.M., Penfield J.A., Lutjohann D., Connor W.E., and Steiner R.D. Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. J Pediatr 154 (2009) 557-561
20. Honda A., Yamashita K., Numazawa M., et al. Highly sensitive quantification of 7alpha-hydroxy-4-cholesten-3-one in human serum by LC-ESI-MS/MS. J Lipid Res 48 (2007) 458-464
21. Honda A., Yamashita K., Miyazaki H., et al. Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS. J Lipid Res 49 (2008) 2063-2073
22. Honda A., Yamashita K., Hara T., et al. Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS. J Lipid Res 50 (2009) 350-357
23. Griffiths W.J., Wang Y., Alvelius G., Liu S., Bodin K., and Sjovall J. Analysis of oxysterols by electrospray tandem mass spectrometry. J Am Soc Mass Spectrom 17 (2006) 341-362
24. Griffiths W.J., Wang Y., Karu K., et al. Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. Clin Chem 54 (2008) 1317-1324
25. Koopman B.J., Van der Molen J.C., Wolthers B.G., de Jager A.E., Waterreus R.J., and Gips C.H. Capillary gas chromatographic determination of cholestanol/cholesterol ratio in biological fluids. Its potential usefulness for the follow-up of some liver diseases and its lack of specificity in diagnosing CTX (cerebrotendinous xanthomatosis). Clin Chim Acta 137 (1984) 305-315
26. Camilleri M., Nadeau A., Tremaine W.J., et al. Measurement of serum 7α-hydroxy-4-cholesten-3-one (or 7αC4), a surrogate test for bile acid malabsorption in health, ileal disease and irritable bowel syndrome using liquid chromatography-tandem mass spectrometry. Neurogastroenterol Motil 21 (2009) 734-743
27. Batta A.K., Salen G., Shefer S., Tint G.S., and Batta M. Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. J Lipid Res 28 (1987) 1006-1012