Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 19, Issue 1, 1999, Pages 159-169

  Marcil, Michel ^a,c   Yu, Lu ^a   Krimbou, Larbi ^a   Boucher, Betsie ^a   Oram, John F ^d   Cohn, Jeffrey S ^a   Genest Jr , Jacques ^a,b,c  

^a Cardiovascular Genetics Laboratory   (Canada)

^b CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^c MONTREAL HEART INSTITUTE   (Canada)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Apolipoprotein A I; Cholesterol efflux; Coronary artery disease; HDL deficiency

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IODINE 125; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; ARTICLE; CELL MEMBRANE TRANSPORT; CELL METABOLISM; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CHOLESTEROL TRANSPORT; CLINICAL ARTICLE; CORONARY ARTERY DISEASE; CORONARY RISK; DISEASE ASSOCIATION; FEMALE; FIBROBLAST; HUMAN; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; TANGIER DISEASE;

EID: 0032952923     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.19.1.159     Document Type: Article

References (55)

1. Murray CJ, Lopez AD. Mortality by cause for eight regions of the world: global burden of disease study. Lancet. 1997;349:1269-1276.
2. American Heart Association. Heart and Stroke Facts: 1995 Statistical Supplement. Dallas, Tex: American Heart Association; 1995.
3. Stampfer MJ, Sacks FM, Salvini S, Willett WC, Hennekens CH. A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction. N Engl J Med. 1991;325:373-381.
4. Genest J Jr, McNamara JR, Salem DN, Ordovas JM, Jenner JL, Millar JS, Silberman SR, Wilson PF, Schaefer EJ. Lipoprotein cholesterol, apolipoproteins A-I and B, and Lipoprotein(a) in men with premature coronary artery disease. J Am Coll Cardiol. 1992;19:782-802.
5. Rudel LL, Morris MD. Determination of cholesterol using o-phthalaldehyde. J Lipid Res. 1973;14:364-366.
6. Genest J Jr, McNamara JR, Salem DN, Conn SD, Millar JS, Wilson PF, Schaefer EJ. Prevalence of risk factors in men with premature coronary artery disease. Am J Cardiol. 1991;67:1185-1189.
7. Genest J Jr, Martin-Munley SS, McNamara JR, Ordovas JM, Jenner JL, Meyers RH, Silberman SR, Wilson PW, Salem DN, Schaefer EJ. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation. 1992;85:2025-2033.
8. Eisenberg S. High density lipoprotein metabolism. J Lipid Res. 1984;25: 1017-1058.
9. Genest J Jr, Bard J-M, Fruchart J-C, Ordovas JM, Schaefer EJ. Familial hypoalphalipoproteinemia in premature coronary artery disease. Arterioscler Thromb. 1993;13:1728-1737.
10. Takata K, Saku K, Ohta T, Takata M, Bai H, Jimi S, Liu R, Sato H, Kajiuama G, Arakawa K. A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary artery disease. Arterioscler Thromb Vasc Biol. 1995;15:1866-1874.
11. von Eckardstein A, Funke H, Walter M, Altland K, Benninghoven A, Assmann G. Structural analysis of human apolipoprotein A-I variants. J Biol Chem. 1990;265:8610-8617.
12. Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res. 1997;38:191-205.
13. Breslow JL. Familial disorders of high density lipoprotein metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:2031-2052.
14. Assmann G, von Eckardstein A, Brewer HB Jr. Familial high density lipoprotein deficiency: Tangier disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:2053-2072.
15. Serfaty-Lacrosniere C, Civeira F, Lanzberg A, Isaia P, Berg J, Janus ED, Smith MP Jr, Pritchard PH, Frohlich J, Lees RS. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis. 1994;107:85-98.
16. Marcil M, Krimbou L, Boucher B, Solymoss BC, Davignon J, Frohlich J, Genest J Jr. Severe familial HDL deficiency in a French Canadian kindred: biochemical and molecular characterization. Arterioscler Thromb Vasc Biol. 1995;15:1015-1024.
17. Cheung MC, Mendez AJ, Wolf AC, Knopp RH. Characterization of apolipoprotein A-I and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux. J Clin Invest. 1993;19:522-529.
18. Rader DJ, Ikewaki K, Duverger N, Feuerstein I, Zech L, Connor W, Brewer HB Jr. Very low high-density lipoproteins without coronary atherosclerosis. Lancet. 1993;342:1455-1458.
19. Walter M, Gerdes U, Seedorf U, Assmann G. The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. Biochem Biophys Res Commun. 1994;205:850-856.
20. Francis GA, Knopp RH, Oram JF. Defective removal of cellular cholesterol and phospholipids by apolipoprotein AI in Tangier disease. J Clin Invest. 1995;96:78-87.
21. Regler G, Trümbach B, Klima B, Lackner KJ, Schmilz G. HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. Arterioscler Thromb Vasc Biol. 1995;15:693-690.
22. Remaley AT, Schumacher JA, Farsi JA, Nazih BD, Brewer HB Jr. Decreased reverse cholesterol transport from Tangier disease fibroblasts: acceptor specificity and effects of brefeldin on lipid efflux. Arterioscler Thromb Vasc Biol. 1997;17:1813-1821.
23. Kelly JL, Kruski AW. Density gradient ultracentrifugation of serum lipoproteins in a swinging bucket rotor. Methods Enzymol. 1986;128: 170-181.
24. Allain CB, Poon LS, Chan FC, Richmond F, Fu PC. Enzymatic determination of total serum cholesterol. Clin Chem. 1974;20:470-475.
25. Sampson EH, Demers LM, Krieg AF. Faster enzymatic procedure for serum triglycerides. Clin Chem. 1975;21:1983-1985.
26. Bartlett GR. Phosphorus assay in column chromatography. J Biol Chem. 1958;234:466-468.
27. Nichols AV, Krauss RM, Musliner TA. Nondenaturing polyacrylamide gradient gel electrophoresis. Methods Enzymol. 1986;128:417-431.
28. Li Z, McNamara JR, Ordovas JM, Schaefer EJ. Analysis of high density lipoproteins by a modified gradient gel electrophoresis method. J Lipid Res. 1994;35:1698-1711.
29. 2-LpE, and α-LpE. J Lipid Res. 1997;38:35-48.
30. Liscum L, Underwood KW. Intracellular cholesterol transport and compartmentation. J Biol Chem. 1995;270:15443-15446.
31. Mendez AJ. Monensin and brefeldin A inhibit high density lipoprotein-mediated cholesterol efflux from cholesterol-enriched cells. J Biol Chem. 1995;270:5891-5900.
32. Lowry OH, Rosebrough NJ, Fair AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951;193:265-275.
33. Brewer HB Jr, Ronan R, Meng M, Bishop C. Isolation and characterization of apolipoproteins A-I, A-II, and A-IV. Methods Enzymol. 1986; 128:223-246.
34. Lange Y, Swaisgood MH, Ramos B, Steck TL. Plasma membranes contain half the phospholipid and 90% of the cholesterol and sphingo-myelin in cultured human fibroblasts. J Biol Chem. 1989;264:3786-3793.
35. Yu L, Qiu S, Genest J Jr. Abnormal regulation of low-density-lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression in heterozygous familial hypercholesterolemia due 10 the "French Canadian mutation." Atherosclerosis. 1996;124:103-117.
36. Hokland B, Mendez AJ, Oram JF. Cellular localization and characterization of proteins that bind high density lipoprotein. J Lipid Res. 1992; 33:1335-1342.
37. Oram JF, Mendez AJ, Slotte JP, Johnson TF. High density lipoprotein apolipoproteins mediate removal of sterol from intracellular pools but not from plasma membranes of cholesterol-loaded fibroblasts. Arterioscler Thromb. 1991;11:403-414.
38. Weber M, McNicoll S, Lussier-Cacan S, Marcil M, Connelly P, Rondeau C, Latour Y, Connelly P, Davignon J, Genest J Jr. Plasma lipoproteins, apolipoprotein B, apolipoprotein E phenotypes and metabolic factors in premature CAD in French Canadians. Can J Cardiol. 1997;13:253-260.
39. Dodson RE, Shapiro DJ. Vigilin, an ubiquitous protein with 14 KH domains, is the estrogen-inducible vitellogenin mRNA 3′untranslated region-binding protein. J Biol Chem. 1997;272:12249-12252.
40. McKnight GL, Reasoner J, Gilbert T, Sundquist KO, Hokland B, McKernan PA, Champagne J, Johnson CJ, Bailey MC, Holly R. Cloning and expression of a cellular HDL binding protein that is up-regulated by cholesterol loading of cells. J Biol Chem. 1992;267: 12131-12141.
41. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. The 1993-94 Génethon human genetic linkage map. Nat Genet. 1994;1993:7:246-339.
42. Xia Y-R, Klisak I, Sparkes RS, Oram JF, Lusis AJ. Localization of the gene for HDL binding protein (HDLBP) to human chromosome 2q37. Genomics. 1993;16:524-525.
43. Batal R, Tremblay M, Krimbou L, Mamer O, Davignon J, Genest J Jr, Cohn JS. Familial deficiency characterized by hypercatabolism of mature apoA-I but not proApoA-I. Arterioscler Thromb Vasc Biol. 1998;18:655-664.
44. Coxey RA, Pentchev PG, Campell G, Blanchette-Mackie EJ. Differential accumulation of cholesterol in Golgi compartments of normal and Niemann-Pick type C fibroblasts incubated with LDL: a cytochemical freeze-fracture study. J Lipid Res. 1993;34:1165-1176.
45. Mendez AJ, Oram JF, Bierman EL. Protein kinase C as a mediator of high density lipoprotein receptor-dependent efflux of intracellular cholesterol. J Biol Chem. 1991;266:10104-10111.
46. Mendez AJ, Uint L. Apolipoprotein-mediated cellular cholesterol and phospholipid efflux depend on a functional Golgi apparatus. J Lipid Res. 1996;37:2510-2524.
47. Ji Y, Jian B, Wang N, De la Llera-Moya M, Phillips MC, Rothblat GH, Swaney JB, Tall AR. Scavenger receptor B1 promotes HDL lipoprotein-mediated cellular cholesterol efflux. J Biol Chem. 1977; 272:20982-20985.
48. Smart EJ, Ying Y-S, Donzell WC, Anderson RG. A role for caveolin in transport of cholesterol from endoplasmic reticulum to plasma membrane. J Biol Chem. 1996;271:29427-29435.
49. Fielding PE, Fielding CJ. Plasma membrane caveolae mediate the efflux of cellular free cholesterol. Biochemistry. 1995;34:14288-14292.
50. Puglielli L, Rigotti A, Greco AV, Santos MJ, Nervi F. Sterol carrier protein-2 is involved in cholesterol transfer from the endoplasmic reticulum to the plasma membrane in human fibroblasts. J Biol Chem. 1995;270:18723-18726.
51. Plenz G, Kugler S, Schnittger S, Rieder H, Fonatsch C, Muller PK. The human vigilin gene: identification, chromosomal localization and expression patterns. Hum Genet. 1994;93:575-582.
52. Burd CG, Dreyfus G. Conserved structure and diversity of RNA-binding proteins. Science. 1994;265:615-621.
53. Kruse C, Grunweller A, Notbom H, Kugler S, Purschke WG, Muller PK. Evidence for a novel cytoplasmic tRNA-protein complex containing the KH-multidomain protein vigilin. J Biochem. 1996;320:247-252.
54. Chen Z, Menon KM. Expression of high density lipoprotein binding protein messenger RNA in the rat ovary and its regulation by gonadotropin. Endocrinology. 1994;134:2360-2366.
55. Chiu DS, Oram JF, LeBoeuf RC, Alpers CE, O'Brien KD. High density lipoprotein binding protein (HBP)/vigilin is expressed in human atherosclerotic lesions and co-localizes with apolipoprotein E. Arterioscler Thromb Vasc Biol. 1997;17:2350-2358.