Lipoproteins
Abstract
Lipoproteins function as vehicles to transport the non-water-soluble lipids in blood as complexes of lipids and proteins. The lipid moiety consists mainly of triglycerides, cholesterol, and phospholipids. The protein moiety consists mainly of apolipoproteins, which act as detergents. In addition several enzymes, lipid transfer proteins, receptors and transporters contribute to the metabolism of lipoproteins. Monogenic dyslipoproteinemias can generally be grouped into five categories: (1) severe hypertriglyceridemia with an isolated increase in chylomicrons and/or VLDL and an increased risk of pancreatitis and fatty liver disease, (2) mixed hyperlipidemia with an increase in chylomicron and VLDL remnants and an increased risk of premature atherosclerosis, (3) hypercholesterolemia with an increase in LDL and an increased risk for premature atherosclerosis, (4) hypoalphalipoproteinemia with low HDL and an increased risk for premature atherosclerosis and, depending on the molecular defect, corneal opacities, hepatosplenomegaly, renal failure or peripheral neuropathy, and (5) hypolipoproteinemia with a severe decrease in VLDL and LDL and an increased risk of retinal or neurological disease and fatty liver. Thus, the class of lipoproteins that is increased or decreased has a strong impact on the clinical presentation and prognosis of a patient. We describe methods used for a closer biochemical or cell biological classification of the phenotype and for the determination of the responsible genetic alterations leading to the various monogenic dyslipoproteinemias.
Keywords
Cholesteryl Ester Transfer Protein Familial Hypercholesterolemia Familial Hypercholesterolemia Microsomal Triglyceride Transfer Protein Cholesteryl OleatePreview
Unable to display preview. Download preview PDF.
References
- 1.Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34:154–156PubMedCrossRefGoogle Scholar
- 2.Aslanidis C, Schmitz G (1999) High-speed apolipoprotein E genotyping and apolipoprotein B3500 mutation detection using real-time fluorescence PCR and melting curves. Clin Chem 45:1094–1097PubMedGoogle Scholar
- 3.Assmann G, von Eckardstein A, Brewer HJ (2000) Familial analphalipoproteinemia: tangier Disease. In: Scriver C, Beaudet A, Sly E, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York, McGraw-Hill, pp 2937–2960Google Scholar
- 4.Asztalos BF, Brousseau ME, McNamara JR, Horvath KV, Roheim PS, Schaefer EJ (2001) Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. Atherosclerosis 156:217–225PubMedCrossRefGoogle Scholar
- 5.Baginsky ML, Brown WV (1979) A new method for the measurement of lipoprotein lipase in postheparin plasma using sodium dodecyl sulfate for the inactivation of hepatic triglyceride lipase. J Lipid Res 20:548–556PubMedGoogle Scholar
- 6.Blache D, Bouthillier D, Davignon J (1983) Simple, reproducible procedure for selective measurement of lipoprotein lipase and hepatic lipase. Clin Chem 29:154–158PubMedGoogle Scholar
- 7.Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL (2002) Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem 48:1913–1918PubMedGoogle Scholar
- 8.Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G (1982) Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis 45:161–179PubMedCrossRefGoogle Scholar
- 9.Bunn CF, Lintott CJ, Scott RS, George PM (2002) Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat 19:311PubMedCrossRefGoogle Scholar
- 10.Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasca G, Gesualdo L, Gigante M, Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini G (2005) The molecular basis of lecithin: cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc Biol 25:1972–1978PubMedCrossRefGoogle Scholar
- 11.Clee SM, Kastelein JJ, van Dam M, Marcil M, Roomp K, Zwarts KY, Collins JA, Roelants R, Tamasawa N, Stulc T, Suda T, Ceska R, Boucher B, Rondeau C, DeSouich C, Brooks-Wilson A, Molhuizen HO, Frohlich J, Genest J, Jr., Hayden MR (2000) Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 106:1263–1270PubMedCrossRefGoogle Scholar
- 12.Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305:869–872PubMedCrossRefGoogle Scholar
- 13.Connelly PW, Vezina C, Maguire GF (1996) Quantification of apolipoprotein C-II by immunochemical and chromatographic methods. Methods Enzymol 263:188–208PubMedGoogle Scholar
- 14.Damgaard D, Jensen JM, Larsen ML, Soerensen VR, Jensen HK, Gregersen N, Jensen LG, Faergeman O (2004) No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes. Atherosclerosis 177:415–422PubMedCrossRefGoogle Scholar
- 15.de Grooth GJ, Klerkx AH, Stroes ES, Stalenhoef AF, Kastelein JJ, Kuivenhoven JA (2004) A review of CETP and its relation to atherosclerosis. J Lipid Res 45:1967–1974PubMedCrossRefGoogle Scholar
- 16.Dedecjus M, Masson D, Gautier T, de Barros JP, Gambert P, Lewinski A, Adamczewski Z, Moulin P, Lagrost L (2003) Low cholesteryl ester transfer protein (CETP) concentration but normal CETP activity in serum from patients with short-term hypothyroidism Lack of relationship to lipoprotein abnormalities. Clin Endocrinol (Oxf) 58:581–588CrossRefGoogle Scholar
- 17.Devaraj S, Hirany S, Jialal I (2000) Ratio of remnant-like particle cholesterol to serum total triglycerides is a reliable screening test for type III dyslipidaemia. Ann Clin Biochem 37:790–791PubMedCrossRefGoogle Scholar
- 18.Devroey D, Vantomme K, Betz W, Vandevoorde J, Kartounian J (2004) A review of the treatment guidelines on the management of low levels of high-density lipoprotein cholesterol. Cardiology 102:61–66PubMedCrossRefGoogle Scholar
- 19.Di Leo E, Lancellotti S, Penacchioni JY, Cefalu AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P (2005) Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 180:311–318PubMedCrossRefGoogle Scholar
- 20.Dobiasova M, Frohlich J (1996) Measurement of fractional esterification rate of cholesterol in plasma depleted of apoprotein B containing lipoprotein: methods and normal values. Physiol Res 45:65–73PubMedGoogle Scholar
- 21.Dobiasova M, Frohlich JJ (1998) Assays of lecithin cholesterol acyltransferase (LCAT) Methods Mol Biol 110:217–230PubMedGoogle Scholar
- 22.Eckardstein A von (2005) Differential diagnosis of familial high density lipoprotein deficiency syndromes. Atherosclerosis 186:231–239CrossRefGoogle Scholar
- 23.Eckardstein A von, Funke H, Chirazi A, Chen-Haudenschild C, Schulte H, Schonfeld R, Kohler E, Schwarz S, Steinmetz A, Assmann G (1994) Sex-specific effects of the glutamine/histidine polymorphism in apo A-IV on HDL metabolism. Arterioscler Thromb 14:1114–1120Google Scholar
- 24.Eckardstein A von, Huang Y, Assmann G (1994) Physiological role and clinical relevance of high-density lipoprotein subclasses. Curr Opin Lipidol 5:404–416CrossRefGoogle Scholar
- 25.Eckardstein A von, Huang Y, Kastelein JJ, Geisel J, Real JT, Kuivenhoven JA, Miccoli R, Noseda G, Assmann G (1998) Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. Atherosclerosis 138:25–34CrossRefGoogle Scholar
- 26.Eckardstein A von, Huang Y, Wu S, Funke H, Noseda G, Assmann G (1995) Reverse cholesterol transport in plasma of patients with different forms of familial HDL deficiency. Arterioscler Thromb Vasc Biol 15:691–703Google Scholar
- 27.Fojo SS, Brewer HB (1992) Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. J Intern Med 231:669–677PubMedCrossRefGoogle Scholar
- 28.Forrester JS, Makkar R, Shah PK (2005) Increasing high-density lipoprotein cholesterol in dyslipidemia by cholesteryl ester transfer protein inhibition: an update for clinicians. Circulation 111:1847–1854PubMedCrossRefGoogle Scholar
- 29.Fouchier SW, Kastelein JJ, Defesche JC (2005) Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 26:550–556PubMedCrossRefGoogle Scholar
- 30.Francis GA, Knopp RH, Oram JF (1995) Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease. J Clin Invest 96:78–87PubMedCrossRefGoogle Scholar
- 31.Fredrickson DS, Lees RS (1965) A system for phenotyping hyperlipoproteinemia. Circulation 31:321–327PubMedGoogle Scholar
- 32.Fredrickson DS, Morganroth J, Levy RI (1975) Type III hyperlipoproteinemia: an analysis of two contemporary definitions. Ann Intern Med 82:150–157PubMedGoogle Scholar
- 33.Frikke-Schmidt R, Nordestgaard BG, Jensen GB, Tybjaerg-Hansen A (2004) Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest 114:1343–1353PubMedGoogle Scholar
- 34.Funke H, Eckardstein A von, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G (1991) 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 88:4855–4859PubMedCrossRefGoogle Scholar
- 35.Funke H, Eckardstein A von, Pritchard PH, Karas M, Albers JJ, Assmann G (1991) A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. J Clin Invest 87:371–376PubMedCrossRefGoogle Scholar
- 36.Gaffney D, Reid JM, Cameron IM, Vass K, Caslake MJ, Shepherd J, Packard CJ (1995) Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler Thromb Vasc Biol 15:1025–1029PubMedGoogle Scholar
- 37.Haase R, Menke-Mollers I, Oette K (1988) Analysis of human apolipoproteins C by isoelectric focusing in immobilized pH gradients. Electrophoresis 9:569–575PubMedCrossRefGoogle Scholar
- 38.Hazzard WR, Porte D Jr., Bierman EL (1972) Abnormal lipid composition of very low density lipoproteins in diagnosis of broad-beta disease (type 3 hyperlipoproteinemia). Metabolism 21:1009–1019CrossRefGoogle Scholar
- 39.Heath KE, Gahan M, Whittall RA, Humphries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia:update, new features and mutation analysis. Atherosclerosis 154:243–246PubMedCrossRefGoogle Scholar
- 40.Henderson AD, Richmond W, Elkeles RS (1993) Hepatic and lipoprotein lipases selectively assayed in postheparin plasma. Clin Chem 39:218–223PubMedGoogle Scholar
- 41.Henriksen FL, Petersen PH, Beck-Nielsen H, Horder M (2001) Calibration, specificity and trueness of a postheparin plasma lipoprotein lipase assay. Clin Chem Lab Med 39:263–269PubMedCrossRefGoogle Scholar
- 42.Hersberger M, Eckardstein A von (2003) Low high-density lipoprotein cholesterol: physiological background, clinical importance and drug treatment. Drugs 63:1907–1945PubMedCrossRefGoogle Scholar
- 43.Hovingh GK, de Groot E, van der Steeg W, Boekholdt SM, Hutten BA, Kuivenhoven JA, Kastelein JJ (2005) Inherited disorders of HDL metabolism and atherosclerosis. Curr Opin Lipidol 16:139–145PubMedCrossRefGoogle Scholar
- 44.Huang W, Sasaki J, Matsunaga A, Nanimatsu H, Moriyama K, Han H, Kugi M, Koga T, Yamaguchi K, Arakawa K (1998) A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. Arterioscler Thromb Vasc Biol 18:389–396PubMedGoogle Scholar
- 45.Hulley SB, Cook SG, Wilson WS, Nichaman MZ, Hatch FT, Lindgren FT (1971) Quantitation of serum lipoproteins by electrophoresis on agarose gel: standardization in lipoprotein concentration units (mg-100 ml) by comparison with analytical ultracentrifugation. J Lipid Res 12:420–433PubMedGoogle Scholar
- 46.Hussain MM, Fatma S, Pan X, Iqbal J (2005) Intestinal lipoprotein assembly. Curr Opin Lipidol 16:281–285PubMedCrossRefGoogle Scholar
- 47.Hussain MM, Shi J, Dreizen P (2003) Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly. J Lipid Res 44:22–32PubMedCrossRefGoogle Scholar
- 48.Innerarity TL, Pitas RE, Mahley RW (1986) Lipoprotein-receptor interactions. Methods Enzymol 129:542–565PubMedGoogle Scholar
- 49.Jap TS, Jenq SF, Wu YC, Chiu CY, Cheng HM (2003) Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan. Pancreas 27:122–126PubMedCrossRefGoogle Scholar
- 50.Jonas A (2000) Lecithin cholesterol acyltransferase. Biochim Biophys Acta 1529:245–256PubMedGoogle Scholar
- 51.Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O’Donovan MC (1999) Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45:1133–1140PubMedGoogle Scholar
- 52.Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 34:29–31PubMedCrossRefGoogle Scholar
- 53.Joy T, Wang J, Hahn A, Hegele RA (2003) APOA1 related amyloidosis: a case report and literature review. Clin Biochem 36:641–645PubMedCrossRefGoogle Scholar
- 54.Kane JP, Havel RJ (2001) Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver C, Beaudet A, Sly E, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 2717–2752Google Scholar
- 55.Kato H, Nakanishi T, Arai H, Nishida HI, Nishida T (1989) Purification, microheterogeneity, and stability of human lipid transfer protein. J Biol Chem 264:4082–4087PubMedGoogle Scholar
- 56.Kim SH, Bae JH, Chae JJ, Kim UK, Choe SJ, Namkoong Y, Kim HS, Park YB, Lee CC (1999) Long-distance PCR-based screening for large rearrangements of the LDL receptor gene in Korean patients with familial hypercholesterolemia. Clin Chem 45:1424–1430PubMedGoogle Scholar
- 57.Kobori K, Saito K, Ito S, Kotani K, Manabe M, Kanno T (2002) A new enzyme-linked immunosorbent assay with two monoclonal antibodies to specific epitopes measures human lecithin-cholesterol acyltransferase. J Lipid Res 43:325–334PubMedGoogle Scholar
- 58.Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (1997) The molecular pathology of lecith in cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 38:191–205PubMedGoogle Scholar
- 59.Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF (2006) Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome. Clin Chim Acta 364:256–259PubMedCrossRefGoogle Scholar
- 60.Lee SJ, Grosskopf I, Choi SY, Cooper AD (2004) Chylomicron remnant uptake in the livers of mice expressing human apolipoproteins E3, E2 (Arg158→Cys), and E3-Leiden. J Lipid Res 45:2199–2210PubMedCrossRefGoogle Scholar
- 61.Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD (1998) Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 26:1396–1400PubMedCrossRefGoogle Scholar
- 62.Mahley RW, Huang Y, Rall SC Jr (1999) Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. J Lipid Res 40:1933–1949PubMedGoogle Scholar
- 63.Mailly F, Palmen J, Muller DP, Gibbs T, Lloyd J, Brunzell J, Durrington P, Mitropoulos K, Betteridge J, Watts G, Lithell H, Angelico F, Humphries SE, Talmud PJ (1997) Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. Hum Mutat 10:465–473PubMedCrossRefGoogle Scholar
- 64.Merkel M, Eckel RH, Goldberg IJ (2002) Lipoprotein lipase:genetics, lipid uptake, and regulation. J Lipid Res 43:1997–2006PubMedCrossRefGoogle Scholar
- 65.Mezdour H, Kora I, Parra HJ, Tartar A, Marcel YL, Fruchart JC (1994) Two-site enzyme immunoassay of cholesteryl ester transfer protein with monoclonal and oligoclonal antibodies. Clin Chem 40:593–597PubMedGoogle Scholar
- 66.Miccoli R, Zhu Y, Daum U, Wessling J, Huang Y, Navalesi R, Assmann G, Eckardstein A von (1997) A natural apolipoprotein A-I variant, apoA-I (L141R)Pisa, interferes with the formation of alpha-high density lipoproteins (HDL) but not with the formation of pre beta 1-HDL and influences efflux of cholesterol into plasma. J Lipid Res 38:1242–1253PubMedGoogle Scholar
- 67.Miserez AR, Laager R, Chiodetti N, Keller U (1994) High prevalence of familial defective apolipoprotein B-100 in Switzerland. J Lipid Res 35:574–583PubMedGoogle Scholar
- 68.Nakanishi T, Tahara D, Akazawa S, Miyake S, Nagataki S (1990) Plasma lipid transfer activities in hyper-high-density lipoprotein cholesterolemic and healthy control subjects. Metabolism 39:225–230PubMedCrossRefGoogle Scholar
- 69.Nauck M, Marz W, Jarausch J, Cobbaert C, Sagers A, Bernard D, Delanghe J, Honauer G, Lehmann P, Oestrich E, Eckardstein A von, Walch S, Wieland H, Assmann G (1997) Multicenter evaluation of a homogeneous assay for HDL-cholesterol without sample pretreatment. Clin Chem 43:1622–1629PubMedGoogle Scholar
- 70.Nauck M, Wieland H, Marz W (2000) Evaluation of the Roche Diagnostics LightCycler-Apo B 3500 Mutation Detection Kit. Clin Chem Lab Med 38:667–671PubMedCrossRefGoogle Scholar
- 71.Nauck MS, Nissen H, Hoffmann MM, Herwig J, Pullinger CR, Averna M, Geisel J, Wieland H, Marz W (1998) Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia. Clin Chem 44:1388–1396PubMedGoogle Scholar
- 72.Neff D, Ruschitzka F, Hersberger M, Enseleit F, Hurlimann D, Noll G, Luscher T, Hanseler E (2003) Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia. Clin Chem Lab Med 41:266–271PubMedCrossRefGoogle Scholar
- 73.Ng DS, Leiter LA, Vezina C, Connelly PW, Hegele RA (1994) Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. J Clin Invest 93:223–229PubMedCrossRefGoogle Scholar
- 74.Noble RP (1968) Electrophoretic separation of plasma lipoproteins in agarose gel. J Lipid Res 9:693–700PubMedGoogle Scholar
- 75.Nofer JR, Remaley AT, Feuerborn R, Wolinska I, Engel T, von Eckardstein A, Assmann G (2006) Apolipoprotein A-I (APO A-I) activates CDC42 signaling through ABCA1 transporter. J Lipid Res 47:794–803PubMedCrossRefGoogle Scholar
- 76.Oram JF, Heinecke JW (2005) ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease. Physiol Rev 85:1343–1372PubMedCrossRefGoogle Scholar
- 77.Peelman F, Vandekerckhove J, Rosseneu M (2000) Structure and function of lecithin cholesterol acyl transferase: new insights from structural predictions and animal models. Curr Opin Lipidol 11:155–160PubMedCrossRefGoogle Scholar
- 78.Probst MC, Thumann H, Aslanidis C, Langmann T, Buechler C, Patsch W, Baralle FE, Dallinga-Thie GM, Geisel J, Keller C, Menys VC, Schmitz G (2004) Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis 175:269–279PubMedCrossRefGoogle Scholar
- 79.Rabes JP, Varret M, Devillers M, Aegerter P, Villeger L, Krempf M, Junien C, Boileau C (2000) R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. Arterioscler Thromb Vasc Biol 20:E76–82PubMedGoogle Scholar
- 80.Reina M, Brunzell JD, Deeb SS (1992) Molecular basis of familial chylomicronemia:mutations in the lipoprotein lipase and apolipoprotein C-II genes. J Lipid Res 33:1823–1832PubMedGoogle Scholar
- 81.Ruel IL, Couture P, Cohn JS, Bensadoun A, Marcil M, Lamarche B (2004) Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. J Lipid Res 45:1528–1537PubMedCrossRefGoogle Scholar
- 82.Ruel IL, Couture P, Cohn JS, Lamarche B (2005) Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. Atherosclerosis 180:355–366PubMedCrossRefGoogle Scholar
- 83.Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 74:5463–5467PubMedCrossRefGoogle Scholar
- 84.Santamarina-Fojo S, Haudenschild C, Amar M (1998) The role of hepatic lipase in lipoprotein metabolism and atherosclerosis. Curr Opin Lipidol 9:211–219PubMedCrossRefGoogle Scholar
- 85.Santamarina-Fojo S, Hoeg J, Assmann G, Brewer HJ (2000) Lecithin: cholesterol acyltransferase deficiency and fish-eye disease. In: Scirver C, Beaudet A, Sly E, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 2817–2833Google Scholar
- 86.Scientific Steering Committee on behalf of the Simon Broome Register Group (1991) Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 303:893–896Google Scholar
- 87.Schonfeld G (2003) Familial hypobetalipoproteinemia: a review. J Lipid Res 44:878–883PubMedCrossRefGoogle Scholar
- 88.Smelt AH, de Beer F (2004) Apolipoprotein E and familial dysbetalipoproteinemia:clinical, biochemical, and genetic aspects. Semin Vasc Med 4:249–257PubMedCrossRefGoogle Scholar
- 89.Sorci-Thomas MG, Thomas MJ (2002) The effects of altered apolipoprotein A-I structure on plasma HDL concentration. Trends Cardiovasc Med 12:121–128PubMedCrossRefGoogle Scholar
- 90.Soufi M, Sattler AM, Maerz W, Starke A, Herzum M, Maisch B, Schaefer JR (2004) A new but frequent mutation of apoB-100-apoB His3543Tyr. Atherosclerosis 174:11–16PubMedCrossRefGoogle Scholar
- 91.Stein O, Stein Y (2005) Lipid transfer proteins (LTP) and atherosclerosis. Atherosclerosis 178:217–230PubMedCrossRefGoogle Scholar
- 92.Tall A, Breslow J, Rubin E (2000) Genetic disorders affecting high density lipoproteins. In: Scriver C, Beaudet A, Sly E, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 2915–2936Google Scholar
- 93.Wang J, Ban MR, Hegele RA (2005) Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Lipid Res 46:366–372PubMedCrossRefGoogle Scholar
- 94.Zandonella G, Haalck L, Spener F, Faber K, Paltauf F, Hermetter A (1995) Inversion of lipase stereospecificity for fluorogenic alkyldiacyl glycerols. Effect of substrate solubilization. Eur J Biochem 231:50–55PubMedCrossRefGoogle Scholar