Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome

Journal of Inherited Metabolic Disease

Volumn 36, Issue 1, 2013, Pages 113-122

  Korade, Zeljka ^b   Xu, Libin ^a   Mirnics, Karoly ^b   Porter, Ned A ^a,c  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c VANDERBILT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

24 HYDROXY 7 DEHYDROCHOLESTEROL; 3BETA,5ALPHA DIHYDROXYCHOLEST 7 EN 6 ONE; 4 ALPHA HYDROXY 7 DEHYDROCHOLESTEROL; 4 BETA HYDROXY 7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL; ARACHIDONIC ACID; BIOLOGICAL MARKER; DOCOSAHEXAENOIC ACID; ISOPROSTANE DERIVATIVE; LIPID; NEUROPROSTANE; OXYSTEROL; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN TISSUE; CHEMICAL STRUCTURE; CHOLESTEROL METABOLISM; CONTROLLED STUDY; FATTY ACID ANALYSIS; GENETIC MODEL; IN VIVO STUDY; LIPID ANALYSIS; LIPID BRAIN LEVEL; LIPID OXIDATION; LIPID PEROXIDATION; LIVER; MOUSE; NONHUMAN; OXIDATIVE STRESS; QUANTITATIVE ANALYSIS; SMITH LEMLI OPITZ SYNDROME; TISSUE LEVEL;

ANIMALS; BIOLOGICAL MARKERS; BRAIN; DEHYDROCHOLESTEROLS; DISEASE MODELS, ANIMAL; LIPID PEROXIDATION; LIVER; MICE; MICE, KNOCKOUT; OXIDATION-REDUCTION; OXIDATIVE STRESS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84872597251     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9504-z     Document Type: Article

References (73)

1. Agus DB, Gambhir SS, Pardridge WM et al. (1997) Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J Clin Invest 100:2842-2848
2. Antczak A, Nowak D, Shariati B, Krol M, Piasecka G, Kurmanowska Z (1997) Increased hydrogen peroxide and thiobarbituric acid-reactive products in expired breath condensate of asthmatic patients. Eur Respir J 10:1235-1241
3. Berliner JA, Heinecke JW (1996) The role of oxidized lipoproteins in atherogenesis. Free Radical Biol Med 20:707-727
4. Bjorkhem I, Cedazo-Minguez A, Leoni V, Meaney S (2009) Oxysterols and neurodegenerative diseases. Mol Aspects Med 30:171-179
5. Bodin K, Bretillon L, Aden Y et al. (2001) Antiepileptic drugs increase plasma levels of 4beta-hydroxycholesterol in humans: evidence for involvement of cytochrome p450 3A4. J Biol Chem 276:38685-38689
6. Bodin K, Andersson U, Rystedt E et al. (2002) Metabolism of 4 beta -hydroxycholesterol in humans. J Biol Chem 277:31534-31540
7. Breuer O, Dzeletovic S, Lund E, Diczfalusy U (1996) The oxysterols cholest-5-ene-3 beta,4 alpha-diol, cholest-5-ene-3 beta,4 beta-diol and cholestane-3 beta,5 alpha,6 alpha-triol are formed during in vitro oxidation of low density lipoprotein, and are present in human atherosclerotic plaques. Biochim Biophys Acta 1302:145-152
8. Brown AJ, Jessup W (1999) Oxysterols and atherosclerosis. Atherosclerosis 142:1-28
9. Brown AJ, Jessup W (2009) Oxysterols: Sources, cellular storage and metabolism, and new insights into their roles in cholesterol homeostasis. Mol Aspects Med 30:111-122
10. Brown AJ, Leong SL, Dean RT, Jessup W (1997) 7-Hydroperoxycholesterol and its products in oxidized low density lipoprotein and human atherosclerotic plaque. J Lipid Res 38:1730-1745
11. Bukelis I, Porter FD, Zimmerman AW, Tierney E (2007) Smith-Lemli-Opitz syndrome and autism spectrum disorder. Am J Psychiatry 164:1655-1661
12. Charman CR, Ryan A, Tyrrell RM et al. (1998) Photosensitivity associated with the Smith-Lemli-Opitz syndrome. Br J Dermatol 138:885-888
13. Chavko M, Nemoto EM, Melick JA (1993) Regional lipid composition in the rat brain. Mol Chem Neuropathol 18:123-131
14. Dietschy JM, Turley SD (2004) Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal. J Lipid Res 45:1375-1397
15. Esterbauer H, Gebicki J, Puhl H, Jurgens G (1992) The role of lipid-peroxidation and antioxidants in oxidative modification of Ldl. Free Radical Biol Med 13:341-390
16. Fahn S, Cohen G (1992) The oxidant stress hypothesis in Parkinson's disease - evidence supporting it. Ann Neurol 32:804-812
17. Fitzky BU, Moebius FF, Asaoka H 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
18. Greene HL, Swift LL, Knapp HR (1991) Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease. J Pediatr 119:398-403
19. Haas D, Garbade SF, Vohwinkel C et al. (2007) Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis 30:375-387
20. Heverin M, Meaney S, Lutjohann D, Diczfalusy U, Wahren J, Bjorkhem I (2005) Crossing the barrier: net flux of 27-hydroxycholesterol into the human brain. J Lipid Res 46:1047-1052
21. Irons M, Elias ER, Salen G, Tint GS, Batta AK (1993) Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414
22. Janowski BA, Willy PJ, Devi TR, Falck JR, Mangelsdorf DJ (1996) An oxysterol signalling pathway mediated by the nuclear receptor LXR alpha. Nature 383:728-731
23. Javitt NB (2007) Oxysterols: functional significance in fetal development and the maintenance of normal retinal function. Curr Opin Lipidol 18:283-288
24. Kalaany NY, Mangelsdorf DJ (2006) LXRS and FXR: the yin and yang of cholesterol and fat metabolism. Annu Rev Physiol 68:159-191
25. Kelley RI (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
26. Kelley RI, Hennekam RC (2000) The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335
27. Korade Z, Xu L, Shelton R, Porter NA (2010) Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. J Lipid Res 51:3259-3269
28. Krakowiak PA, Nwokoro NA, Wassif CA et al. (2000) Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Am J Med Genet 94:214-227
29. Leoni V, Masterman T, Patel P, Meaney S, Diczfalusy U, Bjorkhem I (2003) Side chain oxidized oxysterols in cerebrospinal fluid and the integrity of blood-brain and blood-cerebrospinal fluid barriers. J Lipid Res 44:793-799
30. Lund EG, Guileyardo JM, Russell DW (1999) cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc Natl Acad Sci U S A 96:7238-7243
31. Miller WL, Gaylor JL (1970a) Investigation of the component reactions of oxidative sterol demethylation. Oxidation of a 4 alpha-methyl sterol to a 4 alpha-carboxylic acid during cholesterol biosynthesis. J Biol Chem 245:5369-5374
32. Miller WL, Gaylor JL (1970b) Investigation of the component reactions of oxidative sterol demethylation. Oxidation of a 4,4-dimethyl sterol to a 4 beta-methyl-4 alpha-carboxylic acid during cholesterol biosynthesis. J Biol Chem 245:5375-5381
33. Milne GL, Yin H, Hardy KD, Davies SS, Roberts LJ (2011) Isoprostane generation and function. Chem Rev 111:5973-5996
34. Ming X, Stein TP, Brimacombe M, Johnson WG, Lambert GH, Wagner GC (2005) Increased excretion of a lipid peroxidation biomarker in autism. Prostaglandins Leukot Essent Fatty Acids 73:379-384
35. Montine KS, Quinn JF, Zhang J et al. (2004) Isoprostanes and related products of lipid peroxidation in neurodegenerative diseases. Chem Phys Lipids 128:117-124
36. Montuschi P, Corradi M, Ciabattoni G, Nightingale J, Kharitonov SA, Barnes PJ (1999a) Increased 8-isoprostane, a marker of oxidative stress, in exhaled condensate of asthma patients. Am J Respir Crit Care Med 160:216-220
37. Montuschi P, Corradi M, Ciabattoni G, Nightingale J, Kharitonov SA, Barnes PJ (1999b) Increased 8-isoprostane, a marker of oxidative stress, in exhaled condensate of asthma patients. Am Respir Crit Care Med 160:216-220
38. Morrow JD (2000) The isoprostanes: their quantification as an index of oxidant stress status in vivo. Drug Metab Rev 32:377-385
39. Morrow JD, Zackert WE, Yang JP et al. (1999) Quantification of the major urinary metabolite of 15-F2t-isoprostane (8-iso-PGF2alpha) by a stable isotope dilution mass spectrometric assay. Anal Biochem 269:326-331
40. Musiek ES, Cha JK, Yin H et al. (2004) Quantification of F-ring isoprostane-like compounds (F4-neuroprostanes) derived from docosahexaenoic acid in vivo in humans by a stable isotope dilution mass spectrometric assay. J Chromatogr B 799:95-102
41. Olkkonen VM, Hynynen R (2009) Interactions of oxysterols with membranes and proteins. Mol Aspects Med 30:123-133
42. Packer L, Tritschler HJ, Wessel K (1997) Neuroprotection by the metabolic antioxidant alpha-lipoic acid. Free Radical Biol Med 22:359-378
43. Porter FD, Herman GE (2011) Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 52:6-34
44. Porter FD, Scherrer DE, Lanier MH et al. (2010) Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2:56ra81
45. Pratico D, Tangirala RK, Rader DJ, Rokach J, FitzGerald GA (1998a) Vitamin E suppresses isoprostane generation in vivo and reduces atherosclerosis in ApoE-deficient mice. Nat Med 4:1189-1192
46. Pratico D, Lee VM-Y, Trojanowski JQ, Rokach J, Fitzgerald GA (1998b) Increased F2-isoprostanes in Alzheimer's disease: evidence for enhanced lipid peroxidation in vivo. FASEB J 12:1777-1783
47. Quehenberger O, Armando AM, Brown AH et al. (2010) Lipidomics reveals a remarkable diversity of lipids in human plasma. J Lipid Res 51:3299-3305
48. Richards MJ, Nagel BA, Fliesler SJ (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
49. Roberts LJ 2nd, Montine TJ, Markesbery WR et al. (1998) Formation of isoprostane-like compounds (neuroprostanes) in vivo from docosahexaenoic acid. J Biol Chem 273:13605-13612
50. Rodriguez IR, Larrayoz IM (2010) Cholesterol oxidation in the retina: implications of 7KCh formation in chronic inflammation and age-related macular degeneration. J Lipid Res 51:2847-2862
51. Sayre LM, Zelasko DA, Harris PLR, Perry G, Salomon RG, Smith MA (1997) 4-hydroxynonenal-derived advanced lipid peroxidation end products are increased in Alzheimer's disease. J Neurochem 68:2092-2097
52. Schroepfer GJ Jr (2000) Oxysterols: modulators of cholesterol metabolism and other processes. Physiol Rev 80:361-554
53. Shinkyo R, Xu L, Tallman KA, Cheng Q, Porter NA, Guengerich FP (2011) Conversion of 7-dehydrocholesterol to 7-ketocholesterol is catalyzed by human cytochrome P450 7A1 and occurs by direct oxidation without an epoxide intermediate. J Biol Chem 286:33021-33028
54. Sikora D, Pettit-Kekel K, Penfield J, Merkens L, Steiner R (2006) The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet 140A:1511-1518
55. Simonian NA, Coyle JT (1996) Oxidative stress in neurodegenerative diseases. Annu Rev Pharmacol Toxicol 36:83-106
56. Tint GS, Irons M, Elias ER et al. (1994) Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113
57. Tint GS, Seller M, Hughes-Benzie R et al. (1995) Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J Lipid Res 36:89-95
58. Valencia A, Kochevar IE (2006) Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. Free Radical Biol Med 40:641-650
59. Valencia A, Rajadurai A, Carle AB, Kochevar IE (2006) 7-Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: Roles of NADPH oxidase, mitochondria, and lipid rafts. Free Radical Biol Med 41:1704-1718
60. Vaughan DK, Peachey NS, Richards MJ, Buchan B, Fliesler SJ (2006) Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. Exp Eye Res 82:496-504
61. Vejux A, Lizard G (2009) Cytotoxic effects of oxysterols associated with human diseases: induction of cell death (apoptosis and/or oncosis), oxidative and inflammatory activities, and phospholipidosis. Mol Aspects Med 30:153-170
62. Wang Q, Xu J, Rottinghaus GE et al. (2002) Resveratrol protects against global cerebral ischemic injury in gerbils. Brain Res 958:439-447
63. Wassif CA, Zhu P, Kratz L et al. (2001) Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Hum Mol Genet 10:555-564
64. Xu L, Davis TA, Porter NA (2009) Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes. J Am Chem Soc 131:13037-13044
65. Xu L, Korade Z, Porter NA (2010) Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies. J Am Chem Soc 132:2222-2232
66. Xu L, Korade Z, Rosado DA, Liu W, Lamberson CR, Porter NA (2011a) An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. J Lipid Res 52:1222-1233
67. Xu L, Liu W, Sheflin LG, Fliesler SJ, Porter NA (2011b) Novel oxysterols observed in tissues and fluids of AY9944-treated rats - a model for Smith-Lemli-Opitz Syndrome. J Lipid Res 52:1810-1820
68. Xu L, Mirnics K, Bowman AB et al. (2012a) DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. Neurobiol Dis 45:923-929
69. Xu L, Sheflin LG, Porter NA, Fliesler SJ (2012b) 7-Dehydrocholesterol- derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. Biochim Biophys Acta 1821:877-883
70. Yang F, Lim GP, Begum AN et al. (2005) Curcumin inhibits formation of amyloid beta oligomers and fibrils, binds plaques, and reduces amyloid in vivo. J Biol Chem 280:5892-5901
71. Yin H, Musiek E, Gao L, Porter NA, Morrow JD (2005) Regiochemistry of neuroprostanes generated from the peroxidation of docosahexaenoic acid in vitro and in vivo. J Biol Chem 280:26600-26611
72. Yin H, Xu L, Porter NA (2011) Free radical lipid peroxidation: mechanisms and analysis. Chem Rev 111:5944-5972
73. Yoritaka A, Hattori N, Uchida K, Tanaka M, Stadtman ER, Mizuno Y (1996) Immunohistochemical detection of 4-hydroxynonenal protein adducts in Parkinson disease. Proc Natl Acad Sci U S A 93:2696-2701