DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model

Neurobiology of Disease

Volumn 45, Issue 3, 2012, Pages 923-929

  Xu, Libin ^a   Mirnics, Karoly ^b   Bowman, Aaron B ^b   Liu, Wei ^a   Da, Jennifer ^b   Porter, Ned A ^a   Korade, Zeljka ^b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

7 Dehydrocholesterol; Cortical neurons; DHCEO; Oxysterol; Smith Lemli Opitz syndrome

Indexed keywords

3BETA,5ALPHA DIHYDROXYCHOLEST 7 EN 6 ONE; 7 DEHYDROCHOLESTEROL; CHOLESTEROL; OXYSTEROL; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN CELL; BRAIN CORTEX; BRAIN TISSUE; CELL DIFFERENTIATION; CONTROLLED STUDY; DEVELOPMENTAL GENE; DHCR7 GENE; EMBRYO; GENETIC SUSCEPTIBILITY; GLIA CELL; MESENCEPHALON; NERVE CELL; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ANIMALS; ASTROCYTES; BRAIN; CELL SURVIVAL; CELLS, CULTURED; CHOLESTENONES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DEHYDROCHOLESTEROLS; DISEASE MODELS, ANIMAL; DOSE-RESPONSE RELATIONSHIP, DRUG; EMBRYO, MAMMALIAN; MICE; MICE, KNOCKOUT; NERVE TISSUE PROTEINS; NEURONS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME; TANDEM MASS SPECTROMETRY;

EID: 84856570361     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.12.011     Document Type: Article

References (20)

1. Culturing Nerve Cells 1991, The MIT Press, Cambridge, MA. G. Banker, Goslin (Eds.).
2. Caruso P.A., et al. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology 2004, 46:3-14.
3. Dietschy J.M., Turley S.D. Cholesterol metabolism in the brain. Curr. Opin. Lipidol. 2001, 12:105-112.
4. Fitzky B.U., et al. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J. Clin. Invest. 2001, 108:905-915.
5. Irons M., et al. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 1993, 341:1414.
6. Jiang X.S., et al. Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol. Cell. Proteomics 2011, 9:1461-1475.
7. Jiang X.S., et al. Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum. Mol. Genet. 2011, 19:1347-1357.
8. Korade Z., Mirnics K. Gene expression: the autism disconnect. Nature 2011, 474:294-295.
9. Korade Z., et al. Expression and p75 neurotrophin receptor dependence of cholesterol synthetic enzymes in adult mouse brain. Neurobiol. Aging 2007, 28:1522-1531.
10. Korade Z., et al. Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. J. Lipid Res. 2010, 51:3259-3269.
11. Kriegstein A.R., Dichter M.A. Morphological classification of rat cortical neurons in cell culture. J. Neurosci. 1983, 3:1634-1647.
12. Mueller C., et al. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. Am. J. Med. Genet. A 2003, 123A:100-106.
13. Sholl D.A. Dendritic organization in the neurons of the visual and motor cortices of the cat. J. Anat. 1953, 87:387-406.
14. Tierney E., et al. Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. Ment. Retard. Dev. Disabil. Res. Rev. 2000, 6:131-134.
15. Waage-Baudet H., et al. Immunohistochemical and microarray analyses of a mouse model for the Smith-Lemli-Opitz syndrome. Dev. Neurosci. 2005, 27:378-396.
16. Wassif C.A., et al. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Hum. Mol. Genet. 2001, 10:555-564.
17. Xu L., et al. Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes. J. Am. Chem. Soc. 2009, 131:13037-13044.
18. Xu L., et al. Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies. J. Am. Chem. Soc. 2010, 132:2222-2232.
19. Xu L., et al. An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. J. Lipid Res. 2011, 52:1222-1233.
20. Xu L., et al. Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. J. Lipid Res. 2011, 52:1810-1820.