Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I

Journal of Lipid Research

Volumn 39, Issue 5, 1998, Pages 987-998

  Von Eckardstein, Arnold ^a   Chirazi, Ali ^a   Schuler Lüttmann, Susanne ^a   Walter, Michael ^a   Kastelein, John J P ^b   Geisel, Jürgen ^c   Real, José T ^d   Miccoli, Roberto ^e   Noseda, Giorgio ^f   Höbbel, Gunnar ^a   Assmann, Gerd ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c SAARLAND UNIVERSITY   (Germany)

^d UNIVERSITY OF VALENCIA   (Spain)

^e UNIVERSITY OF PISA   (Italy)

^f Ospedale Beata Vergine   (Switzerland)

Author keywords

Cholesterol efflux; Familial HDL deficiency; Phospholipid transfer proteins; Prebeta HDL; Reverse cholesterol transport

Indexed keywords

ALBUMIN; APOLIPOPROTEIN; APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN; LIPID TRANSFER PROTEIN; PHOSPHATIDYLETHANOLAMINE; PHOSPHATIDYLINOSITOL; PHOSPHOLIPID;

ADULT; ARTICLE; CELL CULTURE; CELL FREE SYSTEM; CLINICAL ARTICLE; CONTROLLED STUDY; FIBROBLAST; HUMAN; HYPOTHESIS; ISOTOPE LABELING; LIPID METABOLISM; LIPID TRANSPORT; LIPOPROTEIN DEFICIENCY; PRIORITY JOURNAL; TANGIER DISEASE;

EID: 14444277482     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (54)

1. Fredrickson, D. S., P. H. Altrocchi, L. V. Avioli, D. S. Goodman, and H. C. Goodman. 1961. Tangier disease - combined clinical staff conference at the National Institutes of Health. Ann. Intern. Med. 55: 1016-1021.
2. Assmann, G., A. von Eckardstein, and H. B. Brewer, Jr. 1995. Familial HDL deficiency. Tangier disease. In The Metabolic and Molecular Basis of Inherited Disease, 7th ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York. 2053-2072.
3. von Eckardstein, A., Y. Huang, S. Wu, H. Funke, G. Noseda, and G. Assmann. 1995. Reverse cholesterol transport in plasmas of patients with different forms of familial high density lipoprotein deficiency. Arterioscler. Thromb. Vasc. Biol. 15: 691-703.
4. Fielding, C., and P. E. Fielding. 1995. Molecular physiology of reverse cholesterol transport. J. Lipid Res. 36: 211-228.
5. von Eckardstein, A. 1996. Cholesterol efflux from macrophages and other cells. Curr. Opin. Lipidol. 7: 308-319.
6. Oram, J. F., and S. Yokoyama. 1997. Apolipoprotein-mediated removal of cellular cholesterol and phospholipids. J. Lipid Res. 37: 2473-2491.
7. Castro, G. R., and C. J. Fielding. 1988. Early incorporation of cell-derived cholesterol into pre-β-migrating high density lipoprotein. Biochemistry. 27: 25-29.
8. Huang, Y., A. von Eckardstein, and G. Assmann. 1993. Cell-derived cholesterol cycles between different HDLs and LDL for its effective esterification in plasma. Arterioscler. Thromb. 13: 445-458.
9. Kawano, M., T. Miida, C. J. Fielding, and P. E. Fielding. 1993. Quantitation of preβ-HDL-dependent and nonspecific components of the total efflux of cellular cholesterol and phospholipid. Biochemistry. 32: 5025-5028.
10. Hara, H., and S. Yokoyama. 1991. Interaction of free apolipoproteins with macrophages: formation of high density lipoprotein-like lipoproteins and reduction of cellular cholesterol. J. Biol. Chem. 266: 3080-3086.
11. Czarnecka, H., and S. Yokoyama. 1995. Lecithin:cholesterol acyltransferase reaction on cellular lipid released by free apolipoprotein-mediated efflux. Biochemistry. 34: 4385-4392.
12. Czarnecka, H., and S. Yokoyama. 1996. Regulation of cellular cholesterol efflux by lecithin:cholesterol acyltransferase reaction through nonspecific lipid exchange. J. Biol. Chem. 266: 2023-2028.
13. Yancey, P. G., J. K. Bielicki, W.J. Johnson, S. Lund-Katz, M. N. Palgunachari, G. M. Anantharamaiah, J. P. Segrest, M. C. Phillips, and G. H. Rothblat. 1995. Efflux of cellular cholesterol and phospholipid to lipid-free apolipoproteins and class A amphipathic peptides. Biochemistry 34: 7955-7965.
14. Li, Q., and S. Yokoyama. 1995. Independent regulation of cholesterol incorporation into free apolipoprotein-mediated cellular lipid efflux in rat vascular smooth muscle cells. J. Biol. Chem. 269: 26216-26223.
15. Mendez, A. J., J. F. Oram, and E. L. Bierman. 1991. Protein kinase C as a mediator of high density lipoprotein dependent efflux of intracellular cholesterol. J. Biol. Chem. 266: 10104-10111.
16. 3 stimulates multiple signaling pathways in human skin fibroblasts. Arterioscler. Thromb. Vasc. Biol. 15: 1975-1986.
17. Francis, G. A., R. H. Knopp, and J. F. Oram. 1995. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease. J. Clin. Invest. 96: 78-87.
18. Remaley, A. T., K. Schumacher, J. A. Stonik, B. D. Farsi, H. Nazih, and H. B. Brewer, Jr. 1997. Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux. Arterioscler. Thromb. Vasc. Biol. 17: 1813-1821.
19. 1-HDL conversion in Tangier disease. Arterioscler. Thromb. Vasc. Biol. 15: 1746-1754.
20. Barrans, A., B. Jaspard, R. Barbaras, H. Chap, B. Perret, and X. Collet. 1996. Pre-β HDL: structure and metabolism. Biochim. Biophys. Acta. 1300: 73-83.
21. Davidson, W. S., D. L. Sparks, S. Lund-Katz, and M. C. Philips. 1994. The molecular basis for the difference of charge between preβ- and α-migrating high density lipoproteins. J. Biol. Chem. 269: 8959-8965.
22. Sparks, D. L., W. S. Davidson, S. Lund-Katz, and M. C. Phillips. 1993. Effect of cholesterol on the charge and structure of apolipoprotein A-I in high density lipoprotein particles. J. Biol. Chem. 268: 23250-23257.
23. 1-high-density lipoprotein from human ovarian follicular fluid: evidence for the presence of a lipid core. Biochemistry. 35: 1352-1357.
24. Assmann, G., E. Smootz, K. Adler, A. Capurso, and K. Oette. 1977. The lipoprotein abnormality in Tangier disease. Quantitation of A apoproteins. J. Clin. Invest. 59: 565-575.
25. Gibbels, E., H. E. Schaefer, U. Runne, J. M. Schröder, W. F. Haupt, and G. Assmann. 1985. Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies. J. Neurol. 232: 283-290.
26. Römling, R., A. von Eckardstein, H. Funke, C. Motti, G. Noseda, G. Fragiacomo, and G. Assmann. 1994. A nonsense mutation in the apolipoprotein A-I gene is associated with high density lipoprotein deficiency but not with coronary artery disease. Arterioscler. Thromb. 14: 1915-1923.
27. Navalesi, R., R. Miccoli, L. Odoguardi, H. Funke, A. von Eckardstein, H. Wiebusch, and G. Assmann. 1995. Genetically determined absence of HDL-cholesterol and coronary atherosclerosis (letter). Lancet. 346: 708-709.
28. Pisa, causes high density lipoprotein deficiency, corneal opacifications, and coronary heart disease. Circulation. 94: 1622-1628.
29. Walter, M., H. Reinecke, U. Gerdes, J. R. Nofer, G. Höbbel, U. Seedorf, and G. Assmann. 1996. Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. J. Clin. Invest. 98: 2315-2323.
30. Havel, R. J., H. A. Eder, and J. H. Bragdon. 1955. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J. Clin. Invest. 34: 1345-1353.
31. von Eckardstein, A., H. Funke, A. Chirazi, C. Chen-Haudenschild, H. Schulte, R. Schönfeld, E. Köhler, S. Schwarz, A. Steinmetz, and G. Assmann. 1994. Sex-specific effects of the glutamine/histidine polymorphism in apolipoprotein A-IV on high density lipoprotein metabolism. Arterioscler. Thromb. 14: 1114-1120.
32. von Eckardstein, A., M. Walter, A. Benninghoven, and G. Assmann. 1991. Site specific methionine sulfoxide formation is the structural basis of chromatographic heterogeneity in apolipoproteins A-I, C-II, and C-III. J. Lipid Res. 32: 1465-1476.
33. Laemmli, U. K. 1970. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature (Lond). 227: 680-685.
34. Pritchard, P. H., R. McLeod, J. Frohlich, M. C. Park, B. J. Kudchodkar, and A. G. Lacko. 1988. Lecithin:cholesterol acyltransferase in familial HDL-deficiency. Biochim. Biophys. Acta. 958: 227-234.
35. Kato, H., T. Nakanishi, and H. Arai. 1989. Purification, microheterogeneity, and stability of human lipid transfer protein. J. Biol. Chem. 264: 4082-4087.
36. Jauhiainen, M., J. Metso, R. Pahlman, S. Blomqvist, A. van Tol, and C. Ehnholm. 1993. Human plasma phospholipid transfer protein causes high density lipoprotein conversion J. Biol. Chem. 268: 4032-4036.
37. Matz, C. E., and A. Jonas. 1982. Micellar complexes of human apolipoprotein A-I with phosphatidylcholines and cholesterol prepared from cholate-lipid dispersions. J. Biol. Chem. 257: 4535-4540.
38. Lowry, O. H., N. J. Rosebrough, A. L. Farr, and R. J. Randall. 1951. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193: 265-275.
39. Tall, A. 1995. Plasma lipid transfer enzymes. Annu. Rev. Biochem. 64: 235-257.
40. Albers, J. J., A. Y. Tu, G. Wolfbauer, M. C. Cheung, and S. M. Marcovina. 1996. Molecular biology of phospholipid transfer protein. Curr. Opin. Lipidol. 7: 88-93.
41. Wirtz, K. W. A. 1991. Phospholipid transfer enzymes. Annu. Rev. Biochem. 60: 73-92.
42. Alb, J. G., M. A. Kearns, and V. A. Bankaitis. 1996. Phospholipid metabolism and membrane dynamics. Curr. Opin. Cell Biol. 8: 534-541.
43. Hennessy, L. K., S. T. Kunitake, and J. P. Kane. 1993. Apolipoprotein A-I-containing lipoproteins, with or without apolipoprotein A-II, as progenitors of preβ-high density lipoprotein particles. Biochemistry. 32: 5759-5765.
44. Liang, H-Q., K-A. Rye, and P. J. Barter. 1994. Dissociation of lipid-free apolipoprotein A-I from high density lipoproteins. J. Lipid Res. 35: 1187-1199.
45. Liang, H-Q., K-A. Rye, and P. J. Barter. 1995. Cycling of apolipoprotein A-I between lipid-associated and lipid-free pools. Biochim. Biophys. Acta. 1257: 31-37.
46. Francone, O. L., L. Royer, and M. Haghpassand. 1996. Increased preβ-HDL levels, cholesterol efflux, and LCAT mediated esterification in mice expressing the human cholesteryl ester transfer protein (CETP) and human apolipoprotein A-I (apoA-I) transgenes. J. Lipid Res. 37: 1268-1277.
47. 1-HDL. Biochim. Biophys. Acta. 1301: 255-261.
48. Jiang, X-J., O. L. Francone, C. Bruce, R. Milne, J. Mar, A. Walsh, J. L. Breslow, and A. R. Tall. 1996. Increased preβ-high density lipoprotein, apolipoprotein A-I, and phospholipid in mice expressing the human phospholipid transfer protein and human apolipoprotein A-I transgenes. J. Clin. Invest. 98: 2373-2380.
49. Clay, M. A., and P. J. Barter. 1996. Formation of new HDL particles from lipid-free apolipoprotein A-I. J. Lipid Res. 37: 1722-1732.
50. Liang, H-Q., K. A. Rye, and P. J. Barter. 1996. Remodelling of reconstituted high density lipoproteins by lecithin:cholesterol acyltransferase. J. Lipid Res. 37: 1962-1970.
51. Wurfel, M. M., and S. D. Wright. 1997. Lipopolysaccharide-binding protein and soluble CD14 transfer lipopolysaccharide to phospholipid bilayers: preferential interaction with particular classes of lipid. J. Immunol. 158: 3925-3934.
52. Yu, B., E. Hailman, and S. D. Wright. 1997. Lipopolysaccharide binding protein and soluble CD14 catalyze exchange of phospholipids. J. Clin. Invest. 99: 315-324.
53. Reinhart, W. H., U. Gössi, P. Bütikofer, P. Ott, H. Sigrist, H. J. Schatzmann, H. U. Lutz, and W. Straub. 1989. Haemolytic anaemia, in analphalipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell. Br. J. Haematol 72: 272-276.
54. 3 and LDL is markedly reduced in cultured fibroblasts from Tangier patients. Arterioscler. Thromb. Vasc. Biol. 15: 1369-1377.