A lipidomic perspective on intermediates in cholesterol synthesis as indicators of disease status

Journal of Genetics and Genomics

Volumn 41, Issue 5, 2014, Pages 275-282

  Sharpe, Laura J ^a   Burns, Vicky ^a   Brown, Andrew J ^a  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

Cholesterol; Intermediates; Lipidomics

Indexed keywords

STEROL; BIOLOGICAL MARKER;

CHOLESTEROL SYNTHESIS; DISEASE MARKER; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INBORN ERROR OF METABOLISM; LIPIDOMICS; PROTEIN ANALYSIS; REVIEW; SAPONIFICATION; ALZHEIMER DISEASE; ANIMAL; BIOSYNTHESIS; CARDIOVASCULAR DISEASE; HEPATITIS; HUMAN; METABOLIC DISORDER; METABOLISM; METABOLOMICS; NON INSULIN DEPENDENT DIABETES MELLITUS;

ALZHEIMER DISEASE; ANIMALS; BIOLOGICAL MARKERS; CARDIOVASCULAR DISEASES; DIABETES MELLITUS, TYPE 2; HEPATITIS; HUMANS; METABOLIC DISEASES; METABOLOMICS; STEROLS;

EID: 84901608065     PISSN: 16738527     EISSN: 18735533     Source Type: Journal    
DOI: 10.1016/j.jgg.2014.03.001     Document Type: Review

References (51)

1. Brindisi M.C., Guiu B., Duvillard L., Athias A., Rollot F., Bouillet B., Beacco M., Hillon P., Cercueil J.P., Verges B., Petit J.M. Liver fat content is associated with an increase in cholesterol synthesis independent of statin therapy use in patients with type 2 diabetes. Atherosclerosis 2012, 224:465-468.
2. Brouwers M.C., Konrad R.J., van Himbergen T.M., Isaacs A., Otokozawa S., Troutt J.S., Schaefer E.J., van Greevenbroek M.M., Stalenhoef A.F., de Graaf J. Plasma proprotein convertase subtilisin kexin type 9 levels are related to markers of cholesterol synthesis in familial combined hyperlipidemia. Nutr. Metab. Cardiovasc. Dis. 2013, 23:1115-1121.
3. Brown A.J., Dean R.T., Jessup W. Free and esterified oxysterol: formation during copper-oxidation of low density lipoprotein and uptake by macrophages. J. Lipid Res. 1996, 37:320-335.
4. Brown A.J., Jessup W. Oxysterols: sources, cellular storage and metabolism, and new insights into their roles in cholesterol homeostasis. Mol. Aspects Med. 2009, 30:111-122.
5. Brown A.J., Leong S.L., Dean R.T., Jessup W. 7-Hydroperoxycholesterol and its products in oxidized low density lipoprotein and human atherosclerotic plaque. J. Lipid Res. 1997, 38:1730-1745.
6. Byskov A.G., Andersen C.Y., Nordholm L., Thogersen H., Xia G., Wassmann O., Andersen J.V., Guddal E., Roed T. Chemical structure of sterols that activate oocyte meiosis. Nature 1995, 374:559-562.
7. Cederberg H., Gylling H., Miettinen T.A., Paananen J., Vangipurapu J., Pihlajamäki J., Kuulasmaa T., Stančáková A. Non-cholesterol sterol levels predict hyperglycemia and conversion to type 2 diabetes in Finnish men. PLoS ONE 2013, 8:e67406.
8. Chevy F., Humbert L., Wolf C. Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. Prenat. Diagn. 2005, 25:1000-1006.
9. de Sain-van der Velden M.G., Verrips A., Prinsen B.H., de Barse M., Berger R., Visser G. Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. J. Inherit. Metab. Dis. 2008, 31:387-393.
10. Dietschy J.M., Turley S.D., Spady D.K. Role of liver in the maintenance of cholesterol and low density lipoprotein homeostasis in different animal species, including humans. J. Lipid Res. 1993, 34:1637-1659.
11. Fahy E., Subramaniam S., Brown H.A., Glass C.K., Merrill A.H., Murphy R.C., Raetz C.R., Russell D.W., Seyama Y., Shaw W., Shimizu T., Spener F., van Meer G., VanNieuwenhze M.S., White S.H., Witztum J.L., Dennis E.A. A comprehensive classification system for lipids. J. Lipid Res. 2005, 46:839-861.
12. Fahy E., Subramaniam S., Murphy R.C., Nishijima M., Raetz C.R., Shimizu T., Spener F., van Meer G., Wakelam M.J., Dennis E.A. Update of the LIPID MAPS comprehensive classification system for lipids. J. Lipid Res. 2009, (Suppl. 50):S9-S14.
13. FitzPatrick D.R., Keeling J.W., Evans M.J., Kan A.E., Bell J.E., Porteous M.E., Mills K., Winter R.M., Clayton P.T. Clinical phenotype of desmosterolosis. Am. J. Med. Genet. 1998, 75:145-152.
14. Gill S., Chow R., Brown A.J. Sterol regulators of cholesterol homeostasis and beyond: the oxysterol hypothesis revisited and revised. Prog. Lipid Res. 2008, 47:391-404.
15. Gill S., Stevenson J., Kristiana I., Brown A.J. Cholesterol-dependent degradation of squalene monooxygenase, a control point in cholesterol synthesis beyond HMG-CoA reductase. Cell Metab. 2011, 13:260-273.
16. Gylling H., Hallikainen M., Pihlajamaki J., Simonen P., Kuusisto J., Laakso M., Miettinen T.A. Insulin sensitivity regulates cholesterol metabolism to a greater extent than obesity: lessons from the METSIM Study. J. Lipid Res. 2010, 51:2422-2427.
17. He M., Kratz L.E., Michel J.J., Vallejo A.N., Ferris L., Kelley R.I., Hoover J.J., Jukic D., Gibson K.M., Wolfe L.A., Ramachandran D., Zwick M.E., Vockley J. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J. Clin. Invest. 2011, 121:976-984.
18. Javitt N.B. Alzheimer's disease: neuroprogesterone, epoxycholesterol, and ABC transporters as determinants of neurodesmosterol tissue levels and its role in amyloid protein processing. J. Alzheimers Dis. 2013, 35:441-450.
19. Kelley R.I., Kratz L.E., Glaser R.L., Netzloff M.L., Wolf L.M., Jabs E.W. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am. J. Med. Genet. 2002, 110:95-102.
20. Kölsch H., Heun R., Jessen F., Popp J., Hentschel F., Maier W., Lutjohann D. Alterations of cholesterol precursor levels in Alzheimer'sdisease. Biochim. Biophys. Acta 2010, 1801:945-950.
21. Lange Y., Ory D.S., Ye J., Lanier M.H., Hsu F.F., Steck T.L. Effectors of rapid homeostatic responses of endoplasmic reticulum cholesterol and 3-hydroxy-3-methylglutaryl-CoA reductase. J. Biol. Chem. 2008, 283:1445-1455.
22. Lehmann B., Genehr T., Knuschke P., Pietzsch J., Meurer M. UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in an invitro human skin equivalent model. J. Invest. Dermatol. 2001, 117:1179-1185.
23. Leichner G.S., Avner R., Harats D., Roitelman J. Metabolically regulated endoplasmic reticulum-associated degradation of 3-hydroxy-3-methylglutaryl-CoA reductase: evidence for requirement of a geranylgeranylated protein. J. Biol. Chem. 2011, 286:32150-32161.
24. Liebisch G., Vizcaíno J.A., Köfeler H., Trötzmüller M., Griffiths W.J., Schmitz G., Spener F., Wakelam M.J. Shorthand notation for lipidstructures derived from mass spectrometry. J. Lipid Res. 2013, 54:1523-1530.
25. Mackay D.S., Jones P.J. Plasma noncholesterol sterols: current uses, potential and need for standardization. Curr. Opin. Lipidol. 2012, 23:241-247.
26. Matthan N.R., Resteghini N., Robertson M., Ford I., Shepherd J., Packard C., Buckley B.M., Jukema J.W., Lichtenstein A.H., Schaefer E.J. Cholesterol absorption and synthesis markers in individuals with and without a CHD event during pravastatin therapy: insights from the PROSPER trial. J. Lipid Res. 2010, 51:202-209.
27. Matthan N.R., Zhu L., Pencina M., D'Agostino R.B., Schaefer E.J., Lichtenstein A.H. Sex-specific differences in the predictive value of cholesterol homeostasis markers and 10-year cardiovascular disease event rate in framingham offspring study participants. J. Am. Heart Assoc. 2013, 2:e005066.
28. Matysik S., Klunemann H.H., Schmitz G. Gas chromatography-tandem mass spectrometry method for the simultaneous determination of oxysterols, plant sterols, and cholesterol precursors. Clin. Chem. 2012, 58:1557-1564.
29. McDonald J.G., Smith D.D., Stiles A.R., Russell D.W. A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma. J. Lipid Res. 2012, 53:1399-1409.
30. McDonald J.G., Thompson B.M., McCrum E.C., Russell D.W. Extraction and analysis of sterols in biological matrices by high performance liquid chromatography electrospray ionization mass spectrometry. Meth. Enzymol. 2007, 432:145-170.
31. Miettinen T.A., Tilvis R.S., Kesaniemi Y.A. Serum cholestanol and plant sterol levels in relation to cholesterol metabolism in middle-aged men. Metabolism 1989, 38:136-140.
32. Min H.K., Kapoor A., Fuchs M., Mirshahi F., Zhou H., Maher J., Kellum J., Warnick R., Contos M.J., Sanyal A.J. Increased hepatic synthesis and dysregulation of cholesterol metabolism is associated with the severity of nonalcoholic fatty liver disease. Cell Metab. 2012, 15:665-674.
33. Nissinen M.J., Miettinen T.E., Gylling H., Miettinen T.A. Applicability of non-cholesterol sterols in predicting response in cholesterol metabolism to simvastatin and fluvastatin treatment among hypercholesterolemic men. Nutr. Metab. Cardiovasc. Dis. 2010, 20:308-316.
34. Pandey A.V., Fluck C.E. NADPH P450 oxidoreductase: structure, function, and pathology of diseases. Pharmacol. Ther. 2013, 138:229-254.
35. Porter F.D., Herman G.E. Malformation syndromes caused by disorders of cholesterol synthesis. J. Lipid Res. 2011, 52:6-34.
36. Rajaratnam R.A., Gylling H., Miettinen T.A. Impaired postprandial clearance of squalene and apolipoprotein B-48 in post-menopausal women with coronary artery disease. Clin. Sci. (Lond.) 1999, 97:183-192.
37. Rodgers M.A., Saghatelian A., Yang P.L. Identification of an overabundant cholesterol precursor in hepatitis B virus replicating cells by untargeted lipid metabolite profiling. J. Am. Chem. Soc. 2009, 131:5030-5031.
38. Rodgers M.A., Villareal V.A., Schaefer E.A., Peng L.F., Corey K.E., Chung R.T., Yang P.L. Lipid metabolite profiling identifies desmosterol metabolism as a new antiviral target for hepatitis C virus. J. Am. Chem. Soc. 2012, 134:6896-6899.
39. Sato Y., Suzuki I., Nakamura T., Bernier F., Aoshima K., Oda Y. Identification of a new plasma biomarker of Alzheimer's disease using metabolomics technology. J. Lipid Res. 2012, 53:567-576.
40. Simonen M., Mannisto V., Leppanen J., Kaminska D., Karja V., Venesmaa S., Kakela P., Kuusisto J., Gylling H., Laakso M., Pihlajamaki J. Desmosterol in human nonalcoholic steatohepatitis. Hepatology 2013, 58:976-982.
41. Simonen P., Kotronen A., Hallikainen M., Sevastianova K., Makkonen J., Hakkarainen A., Lundbom N., Miettinen T.A., Gylling H., Yki-Jarvinen H. Cholesterol synthesis is increased and absorption decreased in non-alcoholic fatty liver disease independent of obesity. J. Hepatol. 2011, 54:153-159.
42. Simonen P.P., Gylling H., Miettinen T.A. The distribution of squalene and non-cholesterol sterols in lipoproteins in type 2 diabetes. Atherosclerosis 2007, 194:222-229.
43. Song B.L., Javitt N.B., DeBose-Boyd R.A. Insig-mediated degradation of HMG CoA reductase stimulated by lanosterol, an intermediate in the synthesis of cholesterol. Cell Metab. 2005, 1:179-189.
44. Spann N.J., Garmire L.X., McDonald J.G., Myers D.S., Milne S.B., Shibata N., Reichart D., Fox J.N., Shaked I., Heudobler D., Raetz C.R.H., Wang E.W., Kelly S.L., Sullards M.C., Murphy R.C., Merrill A.H., Brown H.A., Dennis E.a., Li A.C., Ley K., Tsimikas S., Fahy E., Subramaniam S., Quehenberger O., Russell D.W., Glass C.K. Regulated accumulation of desmosterol integrates macrophage lipid metabolism and inflammatory responses. Cell 2012, 151:138-152.
45. Weingärtner O., Lütjohann D., Vanmierlo T., Müller S., Günther L., Herrmann W., Böhm M., Laufs U., Herrmann M. Markers of enhanced cholesterol absorption are a strong predictor for cardiovascular diseases in patients without diabetes mellitus. Chem. Phys. Lipids 2011, 164:451-456.
46. Wisniewski T., Newman K., Javitt N.B. Alzheimer's disease: brain desmosterol levels. J. Alzheimers Dis. 2013, 33:881-888.
47. Xu L., Korade Z., Rosado D.A., Mirnics K., Porter N.A. Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells. J. Lipid Res. 2013, 54:1135-1143.
48. Yang C., McDonald J.G., Patel A., Zhang Y., Umetani M., Xu F., Westover E.J., Covey D.F., Mangelsdorf D.J., Cohen J.C., Hobbs H.H. Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands. J. Biol. Chem. 2006, 281:27816-27826.
49. Zerenturk E.J., Kristiana I., Gill S., Brown A.J. The endogenous regulator 24(S),25-epoxycholesterol inhibits cholesterol synthesis at DHCR24 (Seladin-1). Biochim. Biophys. Acta 2012, 1821:1269-1277.
50. Zerenturk E.J., Sharpe L.J., Ikonen E., Brown A.J. Desmosterol and DHCR24: unexpected new directions for a terminal step in cholesterol synthesis. Prog. Lipid Res. 2013, 52:666-680.
51. Zhu J., Mounzih K., Chehab E.F., Mitro N., Saez E., Chehab F.F. Effects of FoxO4 overexpression on cholesterol biosynthesis, triacylglycerol accumulation, and glucose uptake. J. Lipid Res. 2010, 51:1312-1324.