Inherited disorders of HDL metabolism and atherosclerosis

Current Opinion in Lipidology

Volumn 16, Issue 2, 2005, Pages 139-145

  Hovingh, G Kees ^a   De Groot, Eric ^a   Van Der Steeg, Wim ^a   Boekholdt, S Matthijs ^a   Hutten, Barbara A ^a   Kuivenhoven, Jan Albert ^a   Kastelein, John J P ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Apolipoprotein AI; Atherosclerosis; ATP binding cassette transporter A1; Cholesteryl ester transfer protein; HDL cholesterol; Intima media thickness; Lecithin: cholesterol acyl transferase; Monogenetic disorders

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; CHOLESTEROL ACYLTRANSFERASE; CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE;

ADULT; ARTERY INTIMA PROLIFERATION; ATHEROSCLEROSIS; CAROTID ARTERY; CONTROLLED STUDY; CORONARY ARTERY DISEASE; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA; HYPOLIPOPROTEINEMIA; LIPOPROTEIN METABOLISM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; ULTRASOUND;

EID: 17144407981     PISSN: 09579672     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mol.0000162318.47172.ef     Document Type: Review

References (53)

1. Okrainec K, Banerjee DK, Eisenberg MJ. Coronary artery disease in the developing world. Am Heart J 2004; 148:7-15.
2. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S). Lancet 1994; 344:1363-1389.
3. Sacks FM, Pfeffer MA, Moye LA, et al. The effect of pravastatin on coronary events after myocardial infarction in patients with average cholesterol levels. Cholesterol and Recurrent Events Trial investigators. N Engl J Med 1996; 335:1001-1009.
4. van Dam M, van Wissen S, Kastelein JJ. Declaring war on undertreatment: rationale for an aggressive approach to lowering cholesterol. J Cardiovasc Risk 2002; 9:89-95.
5. Gordon DJ, Probstfield JL, Garrison RJ, et al. High-density lipoprotein cholesterol and cardiovascular disease: four prospective American studies. Circulation 1989; 79:8-15.
6. Nofer JR, Kehrel B, Fobker M, et al. HDL and arteriosclerosis: beyond reverse cholesterol transport. Atherosclerosis 2002; 161:1-16.
7. Glomset JA. The metabolic role of lecithin: cholesterol acyltransferase: perspectives from pathology. Adv Lipid Res 1973; 11:1-65.
8. Miller M, Rhyne J, Hamlette S, et al. Genetics of HDL regulation in humans. Curr Opin Lipidol 2003; 14:273-279.
9. Nissen SE, Tsunoda T, Tuzcu EM, et al. Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. JAMA 2003; 290:2292-2300.
10. Brousseau ME, Schaefer EJ, Wolfe ML, et al. Effects of an inhibitor of cholesteryl ester transfer protein on HDL cholesterol. N Engl J Med 2004; 350:1505-1515.
11. de Grooth GJ, Kuivenhoven JA, Stalenhoef AF, et al. Efficacy and safety of a novel cholesteryl ester transfer protein inhibitor, JTT-705, in humans: a randomized phase Il dose-response study. Circulation 2002; 105:2159-2165.
12. Funke H, von Eckardstein A, Pritchard PH, et al. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency: six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J Clin Invest 1993; 91:677-683.
13. Hirano K, Yamashita S, Kuga Y, et al. Atherosclerotic disease in marked hyperalphalipoproteinemia: combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. Arterioscler Thromb Vasc Biol 1995; 15:1849-1856.
14. Marcil M, Brooks-Wilson A, Clee SM, et al. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet 1999; 354:1341-1346.
15. de Groot E, Hovingh GK, Wiegman A, et al. Measurement of arterial wall thickness as a surrogate marker for atherosclerosis. Circulation 2004; 109:11133-11138.
16. Wiegman A, de Groot E, Hutten BA, et al. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia. Lancet 2004; 363:369-370.
17. Moore RE, Kawashiri MA, Kitajima K, et al. Apotipoprotein A-I deficiency results in markedly increased atherosclerosis in mice lacking the LDL receptor. Arterioscler Thromb Vasc Biol 2003; 23:1914-1920.
18. Rubin EM, Ishida BY, Clift SM, Krauss RM. Expression of human apolipoprotein A-I in transgenic mice results in reduced plasma levels of murine apolipoprotein A-I and the appearance of two new high density lipoprotein size subclasses. Proc Natl Acad Sci U S A 1991; 88:434-438.
19. Luc G, Bard JM, Ferrieres J, et al. Value of HDL cholesterol, apolipoprotein A-I, lipoprotein A-I, and lipoprotein A-I/A-II in prediction of coronary heart disease: the PRIME Study. Prospective Epidemiological Study of Myocardial Infarction. Arterioscler Thromb Vasc Biol 2002; 22:1155-1161.
20. Ikewaki K, Matsunaga A, Han H, et al. A novel two nucleotide deletion in the apolipoprotein A-I gene, apoA-I Shinbashi, associated with high density lipoprotein deficiency, corneal opacities, planar xanthomas, and premature coronary artery disease. Atherosclerosis 2004; 172:39-45.
21. Yokota H, Hashimoto Y, Okubo S, et al. Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD. Atherosclerosis 2002; 162:399-407.
22. Pisciotta L, Miccoli R, Cantafora A, et al. Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. Atherosclerosis 2003; 167:335-345.
23. Franceschini G, Sirtori CR, Capurso A, et al. A-IMilano apoprotein: decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family. J Clin Invest 1980; 66:892-900.
24. Sirtori CR, Calabresi L, Franceschini G, et al. Cardiovascular status of carriers of the apolipoprotein A-I(Milano) mutant: the Limone sul Garda study. Circulation 2001; 103:1949-1954.
25. Hovingh GK, Brownlie A, Bisoendial RJ, et al. A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease. J Am Coll Cardiol 2004; 44:1429-1435.
26. Franceschini G, Calabresi L, Chiesa G, et al. Increased cholesterol efflux potential of sera from ApoA-IMilano carriers and transgenic mice. Arterioscler Thromb Vasc Biol 1999; 19:1257-1262.
27. Calabresi L, Franceschini G. High density lipoprotein and coronary heart disease: insights from mutations leading to low high density lipoprotein. Curr Opin Lipidol 1997; 8:219-224.
28. Ho HS, Rhyne J, Zeller K, Miller M. Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim Biophys Acta 2002; 1587:60-64.
29. Asztalos BF, Brousseau ME, McNamara JR, et al. Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. Atherosclerosis 2001; 156:217-225.
30. Hovingh GK, Kuivenhoven JA, Bisoendial RJ, et al. HDL deficiency and atherosclerosis: lessons from Tangier disease. J Intern Med 2004; 255:299-301.
31. Bodzioch M, Orso E, Klucken J, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999; 22:347-351.
32. Brooks-Wilson A, Marcil M, Clee SM, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999; 22:336-345.
33. Rust S, Rosier M, Funke H, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999; 22:352-355.
34. Singaraja RR, Brunham LR, Visscher H, et al. Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol 2003; 23:1322-1332.
35. Clee SM, Kastelein JJ, van Dam M, et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 2000; 106:1263-1270.
36. van Dam MJ, de Groot E, Clee SM, et al. Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study. Lancet 2002; 359:37-42.
37. Hong SH, Riley W, Rhyne J, et al. Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T. Clin Chem 2002; 48:2066-2070.
38. Bisoendial RJ, Hovingh GK, Levels JH, et al. Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein. Circulation 2003; 107:2944-2948.
39. Kuivenhoven JA, Pritchard H, Hill J, et al. The molecular pathology of lecithin: cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 1997; 38:191-205.
40. Norum KR, Gjone E. Familial serum-cholesterol esterification failure: a new inborn error of metabolism. Biochim Biophys Acta 1967; 144:698-700.
41. Carlson LA, Philipson B. Fish-eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia. Lancet 1979; 2:922-924.
42. Rader DJ, Ikewaki K, Duverger N, et al. Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease. J Clin Invest 1994; 93:321-330.
43. Ohta T, Nakamura R, Ikeda Y, et al. Evidence for impaired cellular cholesterol removal mediated by apo A-I containing lipoproteins in patients with familial lecithin: cholesterol acyltransferase deficiency. Biochim Biophys Acta 1994; 1213:295-301.
44. Funke H, von Eckardstein A, Pritchard PH, et al. A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. Proc Natl Acad Sci U S A 1991; 88:4855-4859.
45. Kastelein JJ, Pritchard PH, Erkelens DW, et al. Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. J Intern Med 1992; 231:413-419.
46. Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, et al. A unique genetic and biochemical presentation of fish-eye disease. J Clin Invest 1995; 96:2783-2791.
47. Kuivenhoven JA, Weibusch H, Pritchard PH, et al. An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). J Clin Invest 1996; 98:358-364.
48. Inazu A, Brown ML, Hesler CB, et al. Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. N Engl J Med 1990; 323:1234-1238.
49. Maruyama T, Sakai N, Ishigami M, et al. Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalpha-lipoproteinemia. Atherosclerosis 2003; 166:177-185.
50. Teh EM, Dolphin PJ, Breckenridge WC, Tan MH. Human plasma CETP deficiency: identification of a novel mutation in exon 9 of the CETP gene in a Caucasian subject from North America. J Lipid Res 1998; 39:442-456.
51. Zhong S, Sharp DS, Grove JS, et al. Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels. J Clin Invest 1996; 97:2917-2923.
52. Hirano K, Yamashita S, Nakajima N, et al. Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan: marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity. Arterioscler Thromb Vasc Biol 1997; 17:1053-1059.
53. Curb JD, Abbott RD, Rodriguez BL, et al. A prospective study of HDL-C and cholesteryl ester transfer protein gene mutations and the risk of coronary heart disease in the elderly. J Lipid Res 2004; 45:948-953.