A highly sensitive method for analysis of 7-dehydrocholesterol for the study of smith-lemli-opitz syndrome

Journal of Lipid Research

Volumn 55, Issue 2, 2014, Pages 329-337

  Liu, Wei ^a   Xu, Libin ^a   Lamberson, Connor ^a   Haas, Dorothea ^c   Korade, Zeljka ^b   Porter, Ned A ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

7 dehydrocholesterol reductase; Desmosterol; Diels Alder cycloaddition; Gas chromatography; Liquid chromatography mass spectrometry; PTAD

Indexed keywords

7-DEHYDROCHOLESTEROL REDUCTASE; DESMOSTEROL; DIELS-ALDER CYCLOADDITION; GAS CHROMATOGRAPHY; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; PTAD;

ANIMALS; BLOOD CHEMICAL ANALYSIS; CELL LINE, TUMOR; DEHYDROCHOLESTEROLS; HETEROZYGOTE; HUMANS; MICE; NERVOUS SYSTEM; SMITH-LEMLI-OPITZ SYNDROME; TRIAZOLES;

EID: 84893364777     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.D043877     Document Type: Article

References (53)

1. Dietschy, J. M., and S. D. Turley.2001.Cholesterol metabolism in the brain. Curr. Opin. Lipidol. 12 : 105-112.
2. Nes, W. D. 2011.Biosynthesis of cholesterol and other sterols. Chem. Rev. 111 : 6423-6451.
3. Heverin, M., N. Bogdanovic, D. Lutjohann, T. Bayer, I. Pikuleva, L. Bretillon, U. Diczfalusy, B. Winblad, and I. Bjorkhem.2004.Changes in the levels of cerebral and extracerebral sterols in the brain of patients with Alzheimer's disease. J. Lipid Res. 45 : 186-193.
4. Porter, F. D., and G. E. Herman.2011.Malformation syndromes caused by disorders of cholesterol synthesis. J. Lipid Res. 52 : 6-34.
5. Smith, D. W., L. Lemli, and J. M. Opitz.1964.A newly recognized syndrome of multiple congenital anomalies. J. Pediatr. 64 : 210-217.
6. Irons, M., E. R. Elias, G. Salen, G. S. Tint, and A. K. Batta.1993.Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet.341 : 1414.
7. Kelley, R. I., and R. C. M. Hennekam.2000.The Smith-Lemli-Opitz syndrome. J. Med. Genet. 37 : 321-335.
8. Porter, F. D. 2003.Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr. Opin. Pediatr. 15 : 607-613.
9. Fitzky, B. U., F. F. Moebius, H. Asaoka, H. Waage-Baudet, L. Xu, G. Xu, N. Maeda, K. Kluckman, S. Hiller, H. Yu, et al.2001.7-Dehydrocholesterol- dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J. Clin. Invest. 108 : 905-915.
10. Schaaf, C. P., J. Koster, P. Katsonis, L. Kratz, O. A. Shchelochkov, F. Scaglia, R. I. Kelley, O. Lichtarge, H. R. Waterham, and M. Shinawi. 2011.Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am. J. Med. Genet. A. 155A : 1597-1604.
11. Xu, L., T. A. Davis, and N. A. Porter.2009.Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes. J. Am. Chem. Soc. 131 : 13037-13044.
12. Xu, L., Z. Korade, and N. A. Porter.2010.Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies. J. Am. Chem. Soc. 132 : 2222-2232.
13. Xu, L., Z. Korade, D. A. Rosado, W. Liu, C. R. Lamberson, and N. A. Porter.2011.An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. J. Lipid Res. 52 : 1222-1233.
14. Xu, L., W. Liu, L. G. Sheflin, S. J. Fliesler, and N. A. Porter.2011.Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. J. Lipid Res. 52 : 1810-1820.
15. Korade, Z., L. Xu, K. Mirnics, and N. A. Porter.2013.Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. J. Inherit. Metab. Dis. 36 : 113-122.
16. Korade, Z., L. Xu, R. Shelton, and N. A. Porter.2010.Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. J. Lipid Res. 51 : 3259-3269.
17. Xu, L., K. Mirnics, A. B. Bowman, W. Liu, J. Da, N. A. Porter, and Z. Korade.2012.DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. Neurobiol. Dis. 45 : 923-929.
18. Canfrán-Duque, A., M. E. Casado, O. Pastor, J. Sánchez-Wandelmer, G. de la Peña, M. Lerma, P. Mariscal, F. Bracher, M. A. Lasunción, and R. Busto.2013.Atypical antipsychotics alter cholesterol and fatty acid metabolism in vitro. J. Lipid Res. 54 : 310-324.
19. Hall, P., V. Michels, D. Gavrilov, D. Matern, D. Oglesbee, K. Raymond, P. Rinaldo, and S. Tortorelli.2013.Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz syndrome.Mol. Genet. Metab. 110 : 176-178.
20. Higashi, T., K. Shimada, and T. Toyo'oka.2010.Advances in determination of vitamin D related compounds in biological samples using liquid chromatography-mass spectrometry: a review. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 878 : 1654-1661.
21. Alberti, M. N., and M. Orfanopoulos.2009.Concerning the reactivity of PTAD with isomeric dienes: the mechanism of the Diels-Alder cycloaddition. Org. Lett. 11 : 1659-1662.
22. Roubelakis, M. M., G. C. Vougioukalakis, Y. S. Angelis, and M. Orfanopoulos.2006.Solvent-dependent changes in the ene reaction of RTAD with alkenes: the cyclopropyl group as a mechanistic probe. Org. Lett. 8 : 39-42.
23. Vougioukalakis, G. C., and M. Orfanopoulos.2005.Mechanistic studies in triazolinedione ene reactions. Synlett.5: 713-731.
24. Vougioukalakis, G. C., M. M. Roubelakis, M. N. Alberti, and M. Orfanopoulos.2008.Solvent-dependent changes in the triazolinedione-Alkene ene reaction mechanism. Chemistry.14 : 9697-9705.
25. Acevedo, O., and M. E. Squillacote.2008.A new solvent-dependent mechanism for a triazolinedione ene reaction. J. Org. Chem. 73 : 912-922.
26. Anastasia, M., A. Fiecchi, and G. Galli.1981.Synthesis of cholesta-5,8-dien-3-beta-ol.J. Org. Chem. 46 : 3421-3422.
27. Wolf, C., F. Chevy, J. Pham, M. Kolf-Clauw, D. Citadelle, N. Mulliez, and C. Roux.1996.Changes in serum sterols of rats treated with 7- dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. J. Lipid Res. 37 : 1325-1333.
28. Korade, Z., A. K. Kenworthy, and K. Mirnics.2009.Molecular consequences of altered neuronal cholesterol biosynthesis. J. Neurosci. Res. 87 : 866-875.
29. Elemes, Y., and M. Orfanopoulos.1991.Triazolinedione additions to alkenes in protic solvents. A remarkable temperature dependence of the competing reaction paths. Tetrahedron Lett. 32 : 2667-2670.
30. Patrono, C., C. Rizzo, A. Tessa, A. Giannotti, P. Borrelli, R. Carrozzo, F. Piemonte, E. Bertini, C. Dionisi-Vici, and F. M. Santorelli.2000.Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 91 : 138-140.
31. Kelley, R. I. 1995.Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/ mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin. Chim. Acta.236 : 45-58.
32. Richards, M. J., B. A. Nagel, and S. J. Fliesler.2006.Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. Exp. Eye Res. 82 : 538-541.
33. Suzuki, K., and L. D. De Paul.1971.Cellular degeneration in developing central nervous system of rats produced by hypocholesteremic drug AY9944. Lab. Invest. 25 : 546-555.
34. Keller, R. K., D. A. Mitchell, C. C. Goulah, and S. J. Fliesler.2013.Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz syndrome. Lipids.48 : 219-229.
35. Quehenberger, O., A. M. Armando, A. H. Brown, S. B. Milne, D. S. Myers, A. H. Merrill, S. Bandyopadhyay, K. N. Jones, S. Kelly, R. L. Shaner, et al.2010.Lipidomics reveals a remarkable diversity of lipids in human plasma. J. Lipid Res. 51 : 3299-3305.
36. McDonald, J. G., D. D. Smith, A. R. Stiles, and D. W. Russell.2012.A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma. J. Lipid Res. 53 : 1399-1409.
37. Milne, S., P. Ivanova, J. Forrester, and H. Alex Brown.2006.Lipidomics: an analysis of cellular lipids by ESI-MS. Methods.39 : 92-103.
38. Griffiths, W. J., Y. Wang, G. Alvelius, S. Liu, K. Bodin, and J. Sjovall.2006.Analysis of oxysterols by electrospray tandem mass spectrometry. J. Am. Soc. Mass Spectrom. 17 : 341-362.
39. Griffiths, W. J., Y. Wang, K. Karu, E. Samuel, S. McDonnell, M. Hornshaw, and C. Shackleton.2008.Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. Clin. Chem. 54 : 1317-1324.
40. Griffiths, W. J., M. Hornshaw, G. Woffendin, S. F. Baker, A. Lockhart, S. Heidelberger, M. Gustafsson, J. Sjövall, and Y. Wang. 2008.Discovering oxysterols in plasma: a window on the metabolome. J. Proteome Res. 7 : 3602-3612.
41. Griffiths, W. J., A. Brown, R. Reimendal, Y. Yang, J. Zhang, and J. Sjövall. 1996.A comparison of fast-Atom bombardment and electrospray as methods of ionization in the study of sulphated-And sulphonated-lipids by tandem mass spectrometry. Rapid Commun. Mass Spectrom. 10 : 1169-1174.
42. Meljon, A., G. L. Watson, Y. Wang, C. H. Shackleton, and W. J. Griffiths.2013.Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7 (- 3-5/ T93M) mouse: a model of Smith-Lemli-Opitz syndrome. Biochem. Pharmacol. 86 : 43-55.
43. Honda, A., K. Yamashita, H. Miyazaki, M. Shirai, T. Ikegami, G. Xu, M. Numazawa, T. Hara, and Y. Matsuzaki.2008.Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS. J. Lipid Res. 49 : 2063-2073.
44. Liu, W., L. Xu, C. Lamberson, L. Merkens, R. Steiner, E. Elias, D. Haas, and N. Porter.2013.Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J. Lipid Res. 54 : 244-253.
45. Liu, W., H. Yin, Y. O. Akazawa, Y. Yoshida, E. Niki, and N. A. Porter.2010.Ex vivo oxidation in tissue and plasma assays of hydroxyoctadecadienoates: Z,E/E,E stereoisomer ratios. Chem. Res. Toxicol. 23 : 986-995.
46. Barton, D. H. R., T. Shioiri, and D. A. Widdowson.1971.Biosynthesis of terpenes and steroids. Part V. The synthesis of ergosta-5,7,22,24(28)-tetraen-3- ol, a biosynthetic precursor of ergosterol. J. Chem. Soc. C.1971 : 1968-1974.
47. Kim, H. S., W. K. Wilson, D. H. Needleman, F. D. Pinkerton, D. K. Wilson, F. A. Quiocho, and G. J. Schroepfer.1989.Inhibitors of sterol synthesis. Chemical synthesis, structure, and biological activities of (25R)-3-, 26-dihydroxy-5-cholest-8(14)-en-15-one, a metabolite of 3-hydroxy-5-cholest- 8(14)-en-15-one. J. Lipid Res. 30 : 247-261.
48. Johnson, D. W., H. J. ten Brink, and C. Jakobs.2001.A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry.J. Lipid Res. 42 : 1699-1705.
49. Tint, G. S., H. Yu, Q. Shang, G. Xu, and S. B. Patel.2006.The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols. J. Lipid Res. 47 : 1535-1541.
50. Korade, Z., O. M. Folkes, and F. E. Harrison.2013.Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. Pharmacol. Biochem. Behav. 106 : 101-108.
51. Davis, P. B., and K. Vargo.1987.Pulmonary abnormalities in obligate heterozygotes for cystic fibrosis. Thorax.42 : 120-125.
52. Dahl, M., A. Tybjaerg-Hansen, P. Lange, and B. G. Nordestgaard.998. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma. Lancet.351 : 1911-1913.
53. Hall, P., V. Michels, D. Gavrilov, D. Matern, D. Oglesbee, K. Raymond, P. Rinaldo, and S. Tortorelli. 2013.Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. Mol. Genet. Metab. 110 : 176-178.