Signaling by the human serotonin1A receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome

Biochimica et Biophysica Acta - Biomembranes

Volumn 1778, Issue 6, 2008, Pages 1508-1516

  Paila, Yamuna Devi ^a   Murty, Mamidanna R V S ^b   Vairamani, Mariappanadar ^b   Chattopadhyay, Amitabha ^a  

^a CENTRE FOR CELLULAR AND MOLECULAR BIOLOGY   (India)

^b INDIAN INSTITUTE OF CHEMICAL TECHNOLOGY   (India)

Author keywords

7 dehydrocholesterol; Cholesterol; Cholesterol replenishment; Downstream signaling; G protein coupling; Serotonin1A receptor; Smith Lemli Opitz Syndrome

Indexed keywords

1,4 BIS(2 CHLOROBENZYLAMINOMETHYL)CYCLOHEXANE; 7 DEHYDROCHOLESTEROL; 8 DEHYDROCHOLESTEROL; CHOLESTEROL; GUANINE NUCLEOTIDE BINDING PROTEIN; MEMBRANE LIPID; MEMBRANE RECEPTOR; SEROTONIN 1A RECEPTOR;

ANIMAL CELL; ARTICLE; BIOLOGICAL MODEL; CHO CELL; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; ENZYME INHIBITION; LIGAND BINDING; METABOLIC INHIBITION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; SMITH LEMLI OPITZ SYNDROME;

ANIMALS; ANTICHOLESTEREMIC AGENTS; CHO CELLS; CRICETINAE; CRICETULUS; DEHYDROCHOLESTEROLS; GTP-BINDING PROTEINS; HUMANS; LIGANDS; MODELS, BIOLOGICAL; PROTEIN BINDING; RECEPTOR, SEROTONIN, 5-HT1A; SIGNAL TRANSDUCTION; SMITH-LEMLI-OPITZ SYNDROME; TRANS-1,4-BIS(2-CHLOROBENZAMINOMETHYL)CYCLOHEXANE DIHYDROCHLORIDE;

EID: 43649085621     PISSN: 00052736     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbamem.2008.03.002     Document Type: Article

References (71)

1. Smith D.W., Lemli L., and Opitz J.M. A newly recognized syndrome of multiple anomalies. J. Pediatr. 64 (1964) 210-217
2. Waterham H.R., and Wanders R.J.A. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz Syndrome. Biochim. Biophys. Acta 1529 (2000) 340-356
3. Yu H., and Patel S.B. Recent insights into the Smith-Lemli-Opitz Syndrome. Clin. Genet. 68 (2005) 383-391
4. Irons M., Elias E.R., Salen G., Tint G.S., and Batta A.K. Defective cholesterol biosynthesis in Smith-Lemli-Opitz Syndrome. Lancet 341 (1993) 1414
5. Tint G.S., Irons M., Elias E.R., Batta A.K., Frieden R., Chen T.S., and Salen G. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz Syndrome. N. Engl. J. Med. 330 (1994) 107-113
6. Jira P.E., Waterham H.R., Wanders R.J.A., Smeitink J.A.M., Sengers R.C.A., and Wevers R.A. Smith-Lemli-Opitz syndrome and the DHCR7 gene. Ann. Hum. Genet. 67 (2003) 269-280
7. Battaile K.P., and Steiner R.D. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Mol. Genet. Metab. 71 (2000) 154-162
8. Tint G.S., Seller M., Hughes-Benzie H., Batta A.K., Shefer S., Genest D., Irons M., Elias E., and Salen G. 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 (1995) 89-95
9. Burger K., Gimpl G., and Fahrenholz F. Regulation of receptor function by cholesterol. Cell. Mol. Life Sci. 57 (2000) 1577-1592
10. Pucadyil T.J., and Chattopadhyay A. Role of cholesterol in the function and organization of G-protein coupled receptors. Prog. Lipid Res. 45 (2006) 295-333
11. Chattopadhyay A., and Paila Y.D. Lipid-protein interactions, regulation and dysfunction of brain cholesterol. Biochem. Biophys. Res. Commun. 354 (2007) 627-633
12. Peroutka S.J., and Howell T.A. The molecular evolution of G protein-coupled receptors: focus on 5-hydroxytryptamine receptors. Neuropharmacology 33 (1994) 319-324
13. Schöneberg T., Hofreiter M., Schulz A., and Römpler H. Learning from the past: evolution of GPCR functions. Trends Pharmacol. Sci. 28 (2007) 117-121
14. 1A receptor: a representative member of the serotonin receptor family. Cell. Mol. Neurobiol. 25 (2005) 553-580
15. 1A-receptors. Prog. Neurobiol. 81 (2007) 133-178
16. Gingrich J.A., and Hen R. Dissecting the role of the serotonin system in neuropsychiatric disorders using knockout mice. Psychopharmacology 155 (2001) 1-10
17. 1A receptor knockout mouse as a genetic model of anxiety. Eur. J. Pharmacol. 463 (2003) 177-184
18. Dvornik D., Kraml M., Dubuc J., Givner M., and Gaudry R. A novel mode of inhibition of cholesterol biosynthesis. J. Am. Chem. Soc. 85 (1963) 3309
19. 1A receptor heterologously expressed in CHO cells. Biosci. Rep. 24 (2004) 101-115
20. Smith P.K., Krohn R.I., Hermanson G.T., Mallia A.K., Gartner F.H., Provenzano M.D., Fujimoto E.K., Goeke N.M., Olson B.J., and Klenk D.C. Measurement of protein using bicinchoninic acid. Anal. Biochem. 150 (1985) 76-85
21. 1A receptor. Mol. Membr. Biol. 22 (2005) 241-249
22. Bligh E.G., and Dyer W.J. A rapid method of total lipid extraction and purification. Can. J. Biochem. 37 (1959) 911-917
23. Tulenko T.N., Boeze-Battaglia K., Mason R.P., Tint G.S., Steiner R.D., Connor W.E., and Labelle E.F. A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. J. Lipid Res. 47 (2006) 134-143
24. 1A receptor expressed in neuronal cells: toward a native environment for neuronal receptors. Cell. Mol. Neurobiol. 26 (2006) 925-942
25. 2+and the beta gamma-subunit complex on the interactions of guanine nucleotides with G proteins. J. Biol. Chem. 262 (1987) 762-766
26. Norstedt C., and Fredholm B.B. A modification of a protein-binding method for rapid quantification of cAMP in cell-culture supernatants and body fluid. Anal. Biochem. 189 (1990) 231-234
27. Lentz B.R., Moore B.M., and Barrow D.A. Light-scattering effects in the measurement of membrane microviscosity with diphenylhexatriene. Biophys. J. 25 (1979) 489-494
28. Lakowicz J.R. Principles of Fluorescence Spectroscopy. 3rd Ed. (2006), Springer, New York
29. Kandutsch A.A., and Russell A.E. Preputial gland tumor sterols. III. A metabolic pathway from lanosterol to cholesterol. J. Biol. Chem. 235 (1960) 2256-2261
30. Lindenthal B., Aldaghlas T.A., Kelleher J.K., Henkel S.M., Tolba R., Haidl G., and von Bergmann K. Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis. J. Lipid Res. 42 (2001) 1089-1095
31. 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. J. Lipid Res. 37 (1996) 1325-1333
32. Elias E.R., Hansen R.M., Irons M., Quinn N.B., and Fulton A.B. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch. Ophthalmol. 121 (2003) 1738-1743
33. Lin D.S., Steiner R.D., Flavell D.P., and Connor W.E. Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. Pediatr. Res. 57 (2005) 765-770
34. Scalco F.B., Cruzes V.M., Vendramini R.C., Brunetti I.L., and Moretti-Ferreira D. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry. Braz. J. Med. Biol. Res. 36 (2003) 1327-1332
35. 1A receptors from bovine hippocampus. Biochim. Biophys. Acta 1663 (2004) 188-200
36. 1A receptors to inhibitory G protein alpha-subunits and lack of coupling to Gs alpha. Biochemistry 32 (1993) 11064-11073
37. 1A receptors from bovine hippocampus by an agonist and an antagonist. FEBS Lett. 457 (1999) 389-392
38. Porter F.D. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Mol. Genet. Metab. 71 (2000) 163-174
39. Kelley R.I., and Hennekam R.C.M. The Smith-Lemli-Opitz syndrome. J. Med. Genet. 37 (2000) 321-335
40. 1A binding sites. Mol. Brain Res. 69 (1999) 186-201
41. 1A receptor tagged to yellow fluorescent protein. Biochemistry 43 (2004) 15852-15862
42. 1A receptor and altered ganglioside synthesis. Biochim. Biophys. Acta 1310 (1996) 201-211
43. Cunniff C., Kratz L.E., Moser A., Natowicz M.R., and Kelley R.I. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am. J. Med. Genet. 68 (1997) 263-269
44. Gaoua W., Wolf C., Chevy F., Ilien F., and Roux C. Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model. J. Lipid Res. 41 (2000) 637-646
45. Porter F.D. Malformation syndromes due to inborn errors of cholesterol synthesis. J. Clin. Invest. 110 (2002) 715-724
46. Perez D.M. The evolutionarily triumphant G-protein-coupled receptor. Mol. Pharmacol. 63 (2003) 1202-1205.
47. Waterham H.R. Defects of cholesterol biosynthesis. FEBS Lett. 580 (2006) 5442-5449.
48. Papakostas G.I., Öngür D., Iosifescu D.V., Mischoulon D., and Fava M. Cholesterol in mood and anxiety disorders: review of the literature and new hypotheses. Eur. Neuropsychopharmacol. 14 (2004) 135-142.
49. Lalovic A., Merkens L., Russell L., Arsenault-Lapierre G., Nowaczyk M.J.M., Porter F.D., Steiner R.D., and Turecki G. Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. Am. J. Psychiatry. 161 (2004) 2123-2125.
50. Pichot W., Hansenne M., Pinto E., Reggers J., Fuchs S., and Ansseau M. 5-Hydroxytryptamine 1A receptors, major depression, and suicidal behavior. Biol. Psychiatry. 58 (2005) 854-858.
51. Waage-Baudet H., Lauder J.M., Dehart D.B., Kluckman K., Hiller S., Tint G.S., and Sulik K.K. Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. Int. J. Dev. Neurosci. 21 (2003) 451-459
52. Vevera J., Fisar Z., Kvasnicka T., Zdenek H., Stárková L., Ceska R., and Papezová H. Cholesterol-lowering therapy evokes time-limited changes in serotonergic transmission. Psychiatry Res. 133 (2005) 197-203
53. Lijnen P., Echevaría-Vázquez D., and Petrov V. Influence of cholesterol-lowering on plasma membrane lipids and function. Methods Find. Exp. Clin. Pharmacol. 18 (1996) 123-136
54. Gimpl G., Burger K., and Fahrenholz F. A closer look at the cholesterol sensor. Trends Biochem. Sci. 27 (2002) 596-599
55. Ohvo-Rekila H., Ramstedt B., Leppimaki P., and Slotte J.P. Cholesterol interactions with phospholipids in membranes. Prog. Lipid Res. 41 (2002) 66-97
56. Lee A.G. How lipids affect the activities of integral membrane proteins. Biochim. Biophys. Acta. 1666 (2004) 62-87
57. 1A receptors. Biochem. Biophys. Res. Commun. 331 (2005) 422-427
58. 1A receptor: implications in SLOS. Biochem. Biophys. Res. Commun. 358 (2007) 495-499
59. Simons K., and Ikonen E. How cells handle cholesterol. Science. 290 (2000) 1721-1726
60. Mukherjee S., and Maxfield F.R. Membrane domains. Annu. Rev. Cell Dev. Biol. 20 (2004) 839-866
61. Jacobson K., Mouritsen O.G., and Anderson R.G.W. Lipid rafts: at a crossroad between cell biology and physics. Nat. Cell Biol. 9 (2007) 7-14
62. Simons K., and van Meer G. Lipid sorting in epithelial cells. Biochemistry 27 (1988) 6197-6202
63. Simons K., and Toomre D. Lipid rafts and signal transduction. Nat. Rev. Mol. Cell Biol. 1 (2000) 31-39
64. Pucadyil T.J., and Chattopadhyay A. Cholesterol: a potential therapeutic target in Leishmania infection?. Trends Parasitol. 23 (2007) 49-53
65. Keller R.K., Arnold T.P., and Fliesler S.J. Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. J. Lipid Res. 45 (2004) 347-355
66. Berring E.E., Borrenpohl K., Fliesler S.J., and Serfis A.B. A comparison of the behavior of cholesterol and selected derivatives in mixed sterol-phospholipid Langmuir monolayers: a fluorescence microscopy study. Chem. Phys. Lipids 136 (2005) 1-12
67. Wolf C., and Chachaty C. Compared effects of cholesterol and 7-dehydrocholesterol on sphingomyelin-glycerophospholipid bilayers studied by ESR. Biophys. Chem. 84 (2000) 269-279
68. Wolf C., Koumanov K., Tenchov B., and Quinn P.J. Cholesterol favors phase separation of sphingomyelin. Biophys. Chem. 89 (2001) 163-172
69. Megha, Bakht O., and London E. Cholesterol precursors stabilize ordinary and ceramide-rich ordered lipid domains (lipid rafts) to different degrees. Implications for the Bloch hypothesis and sterol biosynthesis disorders. J. Biol. Chem 281 (2006) 21903-21913
70. Gondre-Lewis M.C., Petrache H.I., Wassif C.A., Harries D., Parsegian A., Porter F.D., and Loh Y.P. Abnormal sterols in cholesterol-deficiency diseases cause secretary granule malformation and decreased membrane curvature. J. Cell Sci. 119 (2006) 1876-1885
71. Romanenko V.G., Rothblat G.H., and Levitan I. Modulation of endothelial inward-rectifier K+ current by optical isomers of cholesterol. Biophys. J. 83 (2002) 3211-3222