Familial lecithin-cholesterol acyltransferase deficiency: Biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family

Atherosclerosis

Volumn 185, Issue 2, 2006, Pages 413-420

  Idzior Waluś, Barbara ^a   Sieradzki, Jacek ^a   Kostner, Gert ^c   Małecki, MacIej T ^a   Klupa, Tomasz ^a   Wesołowska, Teresa ^b   Rostworowski, Witold ^a   Hartwich, Jadwiga ^a   Waluś, Małgorzata ^a   Kieć, Aldona Dembińska ^a   Naruszewicz, Marek ^b  

^a JAGIELLONIAN UNIVERSITY   (Poland)

^b POMERANIAN MEDICAL UNIVERSITY   (Poland)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

Familial LCAT deficiency; Hypo alphalipoproteinemia; LCAT gene mutation

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; CHOLESTEROL ESTER; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA DETERMINATION; ENZYME ACTIVITY; FAMILIAL DISEASE; FEMALE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HYPOLIPOPROTEINEMIA; IMMUNOASSAY; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; MUTATION; POLAND; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; APOLIPOPROTEINS; CARRIER PROTEINS; CHILD; CHOLESTEROL ESTER TRANSFER PROTEINS; CHOLESTEROL ESTERS; FEMALE; GLYCOPROTEINS; HUMANS; LECITHIN ACYLTRANSFERASE DEFICIENCY; LIPIDS; LIPOPROTEINS; MALE; MUTATION; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE;

EID: 33644506092     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2005.06.022     Document Type: Article

References (31)

1. P.J. Barter, and K.A. Rye Lecithin: cholesterol acyltransferase DJ. Betteridge DR. Ilingworth J. Shepherd Lipoproteins in health and disease 1999 Arnold
2. M. Liu, J.D. Bagdade, and P.V. Subbaiah Specificity of lecithin:cholesterol acyltransferase and atherogenic risk: comparative studies on the plasma composition and in vitro synthesis of cholesteryl esters in 14 vertebrate species J Lipid Res 3 1995 1813 1824
3. W. Le Goff, M. Guerin, and M.J. Chapman Pharmacological modulation of cholesteryl ester transfer protein, a new therapeutic target in atherogenic dyslipidemia Pharmacol Ther 101 2004 17 38
4. C. Wu, M. Tsujita, and K. Okumura-Noji Cholesteryl ester transfer protein expressed in lecithin cholesterol acyltransferase-deficient mice Arterioscler Thromb Vasc Biol 22 2002 1347 1353
5. S. Santamarina Fojo, G. Lambert, J.M. Hoeg, and H.B. Brewer Jr. Lecithin-cholesterol acyltransferase: role in lipoprotein metabolism, reverse cholesterol transport and atherosclerosis Current Opinion Lipidol. 11 2000 267 273
6. A. Kasid, J. Rhyne, K. Zeller, H. Pritchard, and M. Miller A novel TC deletion resulting in Pro 260 Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol Atherosclerosis 156 2001 127 132
7. M. Guerin, C. Dachet, and S. Goulinet Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of compound heterozygote: LCAT (Arg 147 → Trp) and LCAT (Tyr 171 → Stop) Atherosclerosis 131 1997 85 95
8. P. Chomczynski, K. Mackey, R. Drews, and W. Wilfinger DNAzol: a reagent for the rapid isolation of genomic DNA Biotechniques 22 1997 550 553
9. J. Tichy, and S.J. Dencker Separation of cholesterol esters. A comparison between paper and thin layer chromatography J Chromatogr 33 1968 262 266
10. J. Kahovcova, and R. Otaviĉ A simple method for the quantitative analysis of phospholipids separated by thin-layer chromatography J Chromatogr 40 1969 90 96
11. G.M. Kostner, A. Ibovnik, H. Holzer, and H. Grillhofer Preparation of stable fresh frozen primary lipoprotein - a [Lp (a)] standard J Lipid Res 40 1999 2255 2263
12. H.G. Kraft, A. Lingenhel, G. Bader, G.M. Kostner, and G. Utermann The relative electrophoretic mobility of apo (a) isophorms depends on the gel system: proposal of a nomenclature for apo (a) phenotype Atherosclerosis 125 1996 53 61
13. R.J. Havel, H.A. Eder, and J.H. Bragdon The distribution and chemical composition of ultracentifugally separated lipoproteins in human serum J Clin Invest 34 1955 1345 1353
14. E. Steyrer, and G. Kostner Activation of lecithin cholesterol acyl-transferase by apolipoprotein D: comparison of proteoliposomes containing apolipoprotein D,A-I or C-1 Biochim Biophys Acta 958 1988 484 491
15. J.J. Albers, C.H. Chen, and A.G. Lacko Isolation, characterization and assay of lecithin: cholesterol acyltransferase Methods Enzymol 129 1986 763 783
16. K.T. Stokke, and N.R. Norum Determination of lecithin:cholesterol acyltransferase in human blood plasma Scand J Lab Invest 22 1971 21 27
17. K. Kobori, K. Saito, S. Ito, K. Kotani, M. Manabe, and T. Kanno A new enzyme-linked immunosorbent assay with two monoclonal antibodies to specific epitopes measures human lecithin-cholesterol acyltransferase J Lipid Res 43 2002 325 334
18. G. Argyropoulos, A. Jenkins, and R.L. Klein Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband J Lipid Res 39 1998 1870 1876
19. E.M. Teh, J.W. Chisholm, and P.J. Dolphin Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 Atherosclerosis 146 1999 141 151
20. X.-P. Yang, A. Inazu, and A. Honjo Catalytically inactive lecithin:cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency J Lipid Res 38 1997 585 591
21. F. Peelmann, J.-L. Verschelde, and B. Vanloo Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity J Lipid Res 40 1999 59 69
22. B.L. Vaisman, H.G. Klein, and M. Rouis Overexpression of human lecithin-cholesterol acyltransferase (LCAT) leads to hyperalphalipoproteinemia in transgenic mice J Biol Chem 270 1995 12269 12275
23. E. Steyrer, S. Durovic, and S. Frank The role of lecithin:cholesterol acyltransferase for lipoprotein (a) assembly. Structural integrity of low density lipoproteins is a prerequisite for Lp(a) formation in human plasma J Clin Invest 94 1994 2330 2340
24. M.N. Nanjee, S.J. Stock, and C.J. Cooke A novel LCAT mutation (Phe382 → Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100 Atherosclerosis 170 2003 105 113
25. K.J. Kingsbury, R. Stovold, D.M. Morgan, and C.G. Brett The relationship between plasma cholesteryl polyunsaturated fatty acids, age and atherosclerosis Postgrad Med J 45 1969 591 601
26. A.T. Erkkila, S. Lehto, and K. Pyorala Uusitupa MI. n-3 Fatty acids and 5-y risks of death and cardiovascular diseases events in patients with coronary artery disease J Clin Nutr 78 2002 65 71
27. A. Mehlum, B. Staels, and N. Duverger Tissue specific expression of the human gene for lecithin:cholesterol acyltransferase in transgenic mice alters blood lipids, lipoproteins and lipases towards a less atherogenic profile Eur J Biochem 230 1995 567 575
28. E.G. Lynn, Y.L. Siow, J. Frohlich, and G.T. Cheung O.K. Lipoprotein-X stimulates monocyte chemoattractant protein -1 expression in mesangial cells via nuclear factor-kappa B Kidney Int 60 2001 520 532
29. G. Lambert, N. Sakai, and B.L. Vaisman Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesteol acyltransferase-deficient mice J Biol Chem 276 2001 15090 15098
30. P.V. Subbaiah, and M. Liu Role of sphingomyelin in the regulation of cholesterol esterification in the plasma lipoproteins. Inhibition of lecithin-cholesterol acyltransferase reaction J Biol Chem 268 1993 20156 20163
31. W. Kriz Podocytes as a target for treatment with ACE inhibitors and/or angiotensin-receptor blockers Kidney Int 65 1 2004 Jan 333 334