Differential diagnosis of familial high density lipoprotein deficiency syndromes

Atherosclerosis

Volumn 186, Issue 2, 2006, Pages 231-239

  von Eckardstein, Arnold ^a  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

ABCA1; Apolipoprotein A I; Fish eye disease; HDL deficiency; High density lipoproteins; LCAT; Monogenetic disease; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

AMINO ACID SUBSTITUTION; APOLIPOPROTEIN A1 DEFICIENCY; ATHEROSCLEROSIS; BIOCHEMISTRY; CARDIOVASCULAR DISEASE; CHOLESTEROL BLOOD LEVEL; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE TRANSMISSION; EYE DISEASE; FAMILY; FISH EYE DISEASE; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; GENETICS; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HYPOLIPOPROTEINEMIA; IMMUNOBLOTTING; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW; RISK FACTOR; TANGIER DISEASE;

CHOLESTEROL, HDL; DIAGNOSIS, DIFFERENTIAL; DYSLIPIDEMIAS; HUMANS; HYPOLIPOPROTEINEMIAS; SYNDROME;

EID: 33646433424     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2005.10.033     Document Type: Review

References (50)

1. Gotto Jr. A.M., and Brinton E.A. Assessing low levels of high-density lipoprotein cholesterol as a risk factor in coronary heart disease: a working group report and update. J Am Coll Cardiol 43 (2004) 717-724
2. Devroey D., Vantomme K., Betz W., Vandevoorde J., and Kartounian J. A review of the treatment guidelines on the management of low levels of high-density lipoprotein cholesterol. Cardiology 102 (2004) 61-66
3. Genest Jr. J.J., Martin-Munley S.S., McNamara J.R., et al. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 85 (1992) 2025-2033
4. Wang X., and Paigen B. Genetics of variation in HDL cholesterol in humans and mice. Circ Res 96 (2005) 27-42
5. Pocovi M., Cenarro A., Civeira F., et al. Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia. Lancet 351 (1998) 1919-1923
6. McGovern M.M., Pohl-Worgall T., Deckelbaum R.J., et al. Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr 145 (2004) 77-81
7. Choi H.Y., Karten B., Chan T., et al. Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem 278 (2003) 32569-32577
8. Cohen J.C., Kiss R.S., Pertsemlidis A., et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305 (2004) 869-872
9. Knoblauch H., Bauerfeind A., Toliat M.R., et al. Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum Mol Genet 13 (2004) 993-1004
10. Costanza M.C., Cayanis E., Ross B.M., et al. Relative contributions of genes, environment, and interactions to blood lipid concentrations in a general adult population. Am J Epidemiol 161 (2005) 714-724
11. Nauck M., Marz W., Jarausch J., et al. Multicenter evaluation of a homogeneous assay for HDL-cholesterol without sample pretreatment. Clin Chem 43 (1997) 1622-1629
12. Assmann G., and Schulte H. Results and conclusions of the prospective cardiovascular münster (PROCAM) study. In: Assmann G. (Ed). Lipid Metabolism Disorders and Coronary Heart Disease. 2nd ed. (1993), MMV Medizin Verlag München 19-67
13. Brooks-Wilson A., Marcil M., Clee S.M., et al. Mutations in ABC1 in Tangier disease and familial high density lipoprotein deficiency. Nature Genet 22 (1999) 336
14. von Eckardstein A., Nofer J.R., and Assmann G. HDL and coronary heart disease: role of cholesterol efflux and reverse cholesterol transport. Arterioscler Thromb Vasc Biol 20 (2001) 13-27
15. Sorci-Thomas M.G., and Thomas M.J. The effects of altered apolipoprotein A-I structure on plasma HDL concentration. Trends Cardiovasc Med 12 (2002) 121-128 [Review]
16. Genest Jr. J., Marcil M., Denis M., and Yu L. High density lipoproteins in health and in disease. J Investig Med 47 (1999) 31-42
17. Assmann G., von Eckardstein A., and Funke H. High density lipoproteins, reverse transport of cholesterol, and coronary artery disease. Insights from mutations. Circulation 87 4 Suppl. (1993) III28-III34
18. Chiesa G., and Sirtori C.R. Apolipoprotein A-I(Milano): current perspectives. Curr Opin Lipidol 14 (2003) 159-163
19. Bruckert E., von Eckardstein A., Funke H., et al. The replacement of arginine by cysteine at residue 151 in apolipoprotein A-I produces a phenotype similar to that of apolipoprotein A-IMilano. Atherosclerosis 128 (1997) 121-128
20. Andreola A., Bellotti V., Giorgetti S., et al. Conformational switching and fibrillogenesis in the amyloidogenic fragment of apolipoprotein A-I. J Biol Chem 278 (2003) 2444-2451
21. Obici L., Palladini G., Giorgetti S., et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Gastroenterology 126 (2004) 1416-1422
22. Joy T., Wang J., Hahn A., and Hegele R.A. APOA1 related amyloidosis: a case report and literature review. Clin Biochem 36 (2003) 641-645
23. Miller M., Aiello D., Pritchard H., et al. Apolipoprotein A-I(Zavalla) (Leu159→Pro): HDL cholesterol deficiency in a kindred associated with premature coronary artery disease. Arterioscler Thromb Vasc Biol 18 (1998) 1242-1247
24. Hovingh G.K., Brownlie A., Bisoendial R.J., 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 44 (2004) 1429-1435
25. Tall A., Breslow J.L., and Rubin E.R. Gentic disorders affecting high density lipoproteins. In: Scriver C.R., Beaudet A.L., Sly E.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. (2000), McGraw-Hill, New York 2915-2936
26. 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 172 (2004) 39-45
27. Miccoli R., Bertolotto A., Navalesi N., et al. Compound heterozygosity for a structural apolipoprotein A-I-Variant - ApoA-I(L141R)Pisa - and an Apolipoprotein A-I null allele in patients with density lipoprotein deficiency, corneal opacifications, and coronary heart disease. Circulation 94 (1996) 1622i-1628i
28. Römling R., von Eckardstein A., Funke H., et al. 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 (1994) 1915-1922
29. von Eckardstein A., Funke H., Walter M., et al. Structural analysis of apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure. J Biol Chem 265 (1990) 8610-8617
30. Joyce C., Freeman L., Brewer Jr. H.B., and Santamarina-Fojo S. Study of ABCA1 function in transgenic mice. Arterioscler Thromb Vasc Biol 23 (2003) 965-971
31. Singaraja R.R., Brunham L.R., Visscher H., Kastelein J.J., and Hayden M.R. Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol 23 8 (2003) 1322-1332
32. Wang N., and Tall A.R. Regulation and mechanisms of ATP-binding cassette transporter A1-mediated cellular cholesterol efflux. Arterioscler Thromb Vasc Biol 23 (2003) 1178-1184
33. Probst M.C., Thumann H., Aslanidis C., et al. Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis 175 (2004) 269-279
34. Frikke-Schmidt R., Nordestgaard B.G., Jensen G.B., and Tybjaerg-Hansen A. Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest 114 (2004) 1343-1353
35. Clee S.M., Kastelein J.J., van Dam M., et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 106 (2000) 1263-1270
36. Kyriakou T., Hodgkinson C., Pontefract D.E., et al. Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis. Arterioscler Thromb Vasc Biol 25 (2005) 418-423
37. Tregouet D.A., Ricard S., Nicaud V., et al. In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Arterioscler Thromb Vasc Biol 24 (2004) 775-781
38. Assmann G., von Eckardstein A., and Brewer Jr. H.B. Familial analphalipoproteinemia: Tangier disease. In: Scriver C.R., Beaudet A.L., Sly E.s., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. (2000), McGraw-Hill, New York 2937-2960
39. Paryson D. Diagnosis of hereditary neuropathies in adult patients. J Neurol 250 (2003) 148-160
40. von Eckardstein A., Huang Y., Kastelein J.J.P., et al. Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein depleted plasma of normolipidemic donors and apoA-I-deficient patients but not of Tangier Disease patients. Atherosclerosis 138 (1998) 25-34
41. Hovingh G.K., Van Wijland M.J., Brownlie A., et al. The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. J Lipid Res 44 (2003) 1251-1255
42. Jonas A. Lecithin cholesterol acyltransferase. Biochim Biophys Acta 1529 (2000) 245-256
43. Peelman F., Vandekerckhove J., and Rosseneu M. Structure and function of lecithin cholesterol acyl transferase: new insights from structural predictions and animal models. Curr Opin Lipidol 11 (2000) 155-160
44. Santamarina-Fojo S., Hoeg J.M., Assmann G., and Brewer Jr. H.B. Lecithin cholesterol acyltransferase deficiency and fish-eye disease. In: Scriver C.R., Beaudet A.L., Sly E.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. (2000), McGraw-Hill, New York 2817-2833
45. Kuivenhoven J.A., Pritchard H., Hill J., et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 38 (1997) 191-205
46. Kastelein J.J., Pritchard P.H., Erkelens D.W., et al. Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. J Intern Med 231 (1992) 413-419
47. Calabresi L., Pisciotta, Costantin A., et al. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arteriosclerosis Throm Vasc Biol 25 (2005) 1972-1978
48. Ayyobi A.F., McGladdery S.H., Chan S., et al. Lecithin:cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up. Atherosclerosis 177 (2004) 361-366
49. Zhu X., Herzenberg A.M., Eskandarian M., et al. A novel in vivo lecithin-cholesterol acyltransferase (LCAT)-deficient mouse expressing predominantly LpX is associated with spontaneous glomerulopathy. Am J Pathol 165 (2004) 1269-1278
50. Hovingh K.A., de Groot E., van der Steeg W., et al. Inherited disorders of high density lipoprotein metabolism and atherosclerosis. Curr Opin Lipidol 16 (2005) 139-145