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Volumn 98, Issue 9, 1999, Pages 606-612

Newly identified missense mutation reduces lipoprotein lipase activity in Taiwanese patients with hypertriglyceridemia

Author keywords

Hypertriglyceridemia; Lipoprotein lipase; LPL gene; Missense mutation; Polymorphism; Single strand conformation

Indexed keywords

CHYLOMICRON; LEUCINE; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL; VALINE; VERY LOW DENSITY LIPOPROTEIN;

EID: 0032753522     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (43)
  • 1
    • 0020074325 scopus 로고
    • Lipoprotein lipase secretion by human monocytes and rabbit alveolar macrophages in culture
    • Mahoney EM, Khoo JC, Sterberg D: Lipoprotein lipase secretion by human monocytes and rabbit alveolar macrophages in culture. Proc Natl Acad Sci USA 1982;79: 1639-42.
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 1639-1642
    • Mahoney, E.M.1    Khoo, J.C.2    Sterberg, D.3
  • 2
    • 0020040736 scopus 로고
    • Lipoprotein lipase secretion by human monocyte-derived macrophages
    • Chait A, Iverius PH, Brunzell JD: Lipoprotein lipase secretion by human monocyte-derived macrophages. J Clin Invest 1982;69:490-3.
    • (1982) J Clin Invest , vol.69 , pp. 490-493
    • Chait, A.1    Iverius, P.H.2    Brunzell, J.D.3
  • 4
    • 0024343290 scopus 로고
    • Postheparin plasma lipoprotein and hepatic lipases are determinants of hypo- and hyperalphalipoproteinemia
    • Kuusi T, Ehnholm C, Viikari J, et al: Postheparin plasma lipoprotein and hepatic lipases are determinants of hypo- and hyperalphalipoproteinemia. J Lipid Res 1989; 30:1117-26.
    • (1989) J Lipid Res , vol.30 , pp. 1117-1126
    • Kuusi, T.1    Ehnholm, C.2    Viikari, J.3
  • 5
    • 0002330773 scopus 로고
    • Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
    • Scriver CR, Beauder AL, Sly WS, et al, eds. New York: McGraw-Hill
    • Brunzell JD: Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Beauder AL, Sly WS, et al, eds. The Metabolic Basis of Inherited Disease. 6th ed. New York: McGraw-Hill, 1989:1165-80.
    • (1989) The Metabolic Basis of Inherited Disease. 6th Ed. , pp. 1165-1180
    • Brunzell, J.D.1
  • 6
    • 0024383955 scopus 로고
    • The detection and characterization of the heterozygote state for lipoprotein lipase deficiency
    • Babirak SP, Iverius PH, Fujumoto WY, et al: The detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 1989;9:326-34.
    • (1989) Arteriosclerosis , vol.9 , pp. 326-334
    • Babirak, S.P.1    Iverius, P.H.2    Fujumoto, W.Y.3
  • 7
    • 0029047717 scopus 로고
    • A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
    • Reymer PW, Gagne E, Groenemeyer BE, et al: A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nature Genet 1995;10:28-34.
    • (1995) Nature Genet , vol.10 , pp. 28-34
    • Reymer, P.W.1    Gagne, E.2    Groenemeyer, B.E.3
  • 8
    • 0023423565 scopus 로고
    • Human genes involved in lipolysis of plasma lipoproteins: Mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21
    • Sparkes RS, Zollman S, Klisak I, et al: Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics 1987;1:138-44.
    • (1987) Genomics , vol.1 , pp. 138-144
    • Sparkes, R.S.1    Zollman, S.2    Klisak, I.3
  • 9
    • 0023664546 scopus 로고
    • The sequence of cDNA encoding lipoprotein lipase. A member of a lipase gene family
    • Kirchgessner TG, Svenson KL, Lusis J, et al: The sequence of cDNA encoding lipoprotein lipase. A member of a lipase gene family. J Biol Chem 1987;262:8463-6.
    • (1987) J Biol Chem , vol.262 , pp. 8463-8466
    • Kirchgessner, T.G.1    Svenson, K.L.2    Lusis, J.3
  • 10
    • 0023090942 scopus 로고
    • Human lipoprotein lipase complementary DNA sequence
    • Wion KL, Kirchgessner TG, Lusis AJ, et al: Human lipoprotein lipase complementary DNA sequence. Science 1987;235:1638-41.
    • (1987) Science , vol.235 , pp. 1638-1641
    • Wion, K.L.1    Kirchgessner, T.G.2    Lusis, A.J.3
  • 11
    • 0024397097 scopus 로고
    • Structure of the human lipoprotein lipase gene
    • Deeb SS, Peng R: Structure of the human lipoprotein lipase gene. Biochemistry 1989;28:4131-4.
    • (1989) Biochemistry , vol.28 , pp. 4131-4134
    • Deeb, S.S.1    Peng, R.2
  • 12
    • 0025811179 scopus 로고
    • Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene
    • Ameis D, Kobayashi J, Davis RC, et al: Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. J Clin Invest 1991;87:1165-70.
    • (1991) J Clin Invest , vol.87 , pp. 1165-1170
    • Ameis, D.1    Kobayashi, J.2    Davis, R.C.3
  • 13
    • 0026733335 scopus 로고
    • Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization
    • Hata A, Ridinger DN, Sutherland SD, et al: Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. J Biol Chem 1992;267:20132-9.
    • (1992) J Biol Chem , vol.267 , pp. 20132-20139
    • Hata, A.1    Ridinger, D.N.2    Sutherland, S.D.3
  • 14
    • 0026611411 scopus 로고
    • A missense mutation (Asp250Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries
    • Ma Y, Wilson BI, Bijvoet S, et al: A missense mutation (Asp250Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics 1992;13:649-53.
    • (1992) Genomics , vol.13 , pp. 649-653
    • Ma, Y.1    Wilson, B.I.2    Bijvoet, S.3
  • 15
    • 0025097959 scopus 로고
    • Partial gene duplication involving exon-alu interchange results in lipoprotein lipase deficiency
    • Devlin RH, Deeb S, Brunzell JD, et al: Partial gene duplication involving exon-alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet 1990;46: 112-9.
    • (1990) Am J Hum Genet , vol.46 , pp. 112-119
    • Devlin, R.H.1    Deeb, S.2    Brunzell, J.D.3
  • 16
    • 0026800903 scopus 로고
    • A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family
    • Chimienti G, Capurso A, Resta F, et al: A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family. Biochem Biophys Res Commun 1992;187:620-7.
    • (1992) Biochem Biophys Res Commun , vol.187 , pp. 620-627
    • Chimienti, G.1    Capurso, A.2    Resta, F.3
  • 17
    • 0026611813 scopus 로고
    • Trp64→nonsense mutation in the lipoprotein lipase gene
    • Sprecher DL, Kobayashi H, Rymaszewski M, et al: Trp64→nonsense mutation in the lipoprotein lipase gene. J Lipid Res 1992;33:859-66.
    • (1992) J Lipid Res , vol.33 , pp. 859-866
    • Sprecher, D.L.1    Kobayashi, H.2    Rymaszewski, M.3
  • 18
    • 0017736797 scopus 로고
    • Enzymic determination of plasma cholesterol on discrete automatic analyzers
    • Nobbs BT, Smith JM, Wallar AW: Enzymic determination of plasma cholesterol on discrete automatic analyzers. Clin Chim Acta 1977;79:391-7.
    • (1977) Clin Chim Acta , vol.79 , pp. 391-397
    • Nobbs, B.T.1    Smith, J.M.2    Wallar, A.W.3
  • 19
    • 0000641718 scopus 로고
    • The measurement of serum triglyceride on the Hitachi 705 chemistry analyzer
    • Naito HK, Gatautis VJ, Galen RS: The measurement of serum triglyceride on the Hitachi 705 chemistry analyzer. Clin Chem 1985;31:948.
    • (1985) Clin Chem , vol.31 , pp. 948
    • Naito, H.K.1    Gatautis, V.J.2    Galen, R.S.3
  • 20
    • 0017350190 scopus 로고
    • Cholesterol determination in high-density lipoproteins separated by three different methods
    • Lopes-Virella MF, Stone P, Ellis S, et al: Cholesterol determination in high-density lipoproteins separated by three different methods. Clin Chem 1977;23:882-4.
    • (1977) Clin Chem , vol.23 , pp. 882-884
    • Lopes-Virella, M.F.1    Stone, P.2    Ellis, S.3
  • 21
    • 0021840015 scopus 로고
    • Precipitation methods for the determination of LDL-cholesterol
    • Kerscher L, Schiefer S, Draeger B: Precipitation methods for the determination of LDL-cholesterol. Clin Biochem 1985;18:118-25.
    • (1985) Clin Biochem , vol.18 , pp. 118-125
    • Kerscher, L.1    Schiefer, S.2    Draeger, B.3
  • 22
    • 0028155887 scopus 로고
    • Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA
    • Richard P, Thomas G, de Zulueta MP, et al: Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. Clin Chem 1994;40:24-9.
    • (1994) Clin Chem , vol.40 , pp. 24-29
    • Richard, P.1    Thomas, G.2    De Zulueta, M.P.3
  • 23
    • 0026080111 scopus 로고
    • A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
    • Lahiri DK, Nurnberger JI Jr: A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5444
    • Lahiri, D.K.1    Nurnberger J.I., Jr.2
  • 24
    • 0024791116 scopus 로고
    • Organization of the human lipoprotein lipase gene and evolution of the lipase gene family
    • Kirchgessner TG, Chuat JC, Heinzmann C, et al: Organization of the human lipoprotein lipase gene and evolution of the lipase gene family. Proc Natl Acad Sci USA 1989; 86:9647-51.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9647-9651
    • Kirchgessner, T.G.1    Chuat, J.C.2    Heinzmann, C.3
  • 25
    • 0025289589 scopus 로고
    • Structure and polymorphic map of human lipoprotein lipase gene
    • Oka K, Tkalcevic GT, Nakano T, et al: Structure and polymorphic map of human lipoprotein lipase gene. Biochim Biophys Acta 1991;1049:21-6.
    • (1991) Biochim Biophys Acta , vol.1049 , pp. 21-26
    • Oka, K.1    Tkalcevic, G.T.2    Nakano, T.3
  • 26
    • 0028171162 scopus 로고
    • Ultra fast DNA recovery from agarose by centrifugation through a paper slurry
    • Chuang SE, Blattner FR: Ultra fast DNA recovery from agarose by centrifugation through a paper slurry. Biotechniques 1994;17:634-6.
    • (1994) Biotechniques , vol.17 , pp. 634-636
    • Chuang, S.E.1    Blattner, F.R.2
  • 27
    • 0025325983 scopus 로고
    • The megaprimer method of site-directed mutagenesis
    • Sakar G, Sommer SS: The megaprimer method of site-directed mutagenesis. Biotechnology 1990;8:404-7.
    • (1990) Biotechnology , vol.8 , pp. 404-407
    • Sakar, G.1    Sommer, S.S.2
  • 28
    • 0020971311 scopus 로고
    • A rapid alkaline extraction method for the isolation of plasmid DNA
    • Birnboim HG: A rapid alkaline extraction method for the isolation of plasmid DNA. Meth Enzymol 1983;100:243-55.
    • (1983) Meth Enzymol , vol.100 , pp. 243-255
    • Birnboim, H.G.1
  • 29
    • 0017202148 scopus 로고
    • A stable, radioactive substrate emulsion for assay of lipoprotein lipase
    • Nilsson-Ehle P, Schotz MC: A stable, radioactive substrate emulsion for assay of lipoprotein lipase. J Lipid Res 1976; 17:536-41.
    • (1976) J Lipid Res , vol.17 , pp. 536-541
    • Nilsson-Ehle, P.1    Schotz, M.C.2
  • 30
    • 0029563194 scopus 로고    scopus 로고
    • Immunochemical quantitation of lipoprotein lipase
    • Zsigmond E, Lo JY, Smith LC, et al: Immunochemical quantitation of lipoprotein lipase. Meth Enzymol 1996; 263:327-33.
    • (1996) Meth Enzymol , vol.263 , pp. 327-333
    • Zsigmond, E.1    Lo, J.Y.2    Smith, L.C.3
  • 31
    • 0026647688 scopus 로고
    • Hypertriglyceridemia due to genetic defects in lipoprotein lipase and apolipoprotein CII
    • Fojo SS, Brewer HB: Hypertriglyceridemia due to genetic defects in lipoprotein lipase and apolipoprotein CII. J Int Med 1992;231:669-77.
    • (1992) J Int Med , vol.231 , pp. 669-677
    • Fojo, S.S.1    Brewer, H.B.2
  • 32
    • 0020478765 scopus 로고
    • Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site
    • Weisgraber KH, Innerarity TL, Mahley RW: Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site. J Biol Chem 1982;257:2518-21.
    • (1982) J Biol Chem , vol.257 , pp. 2518-2521
    • Weisgraber, K.H.1    Innerarity, T.L.2    Mahley, R.W.3
  • 33
    • 0026514988 scopus 로고
    • Modulation of plasma triglyceride levels by apoe phenotype: A metaanalysis
    • Dallongeville J, Lussier-Cacan S, Davignon J: Modulation of plasma triglyceride levels by apoE phenotype: a metaanalysis. J Lipid Res 1992;33:447-54.
    • (1992) J Lipid Res , vol.33 , pp. 447-454
    • Dallongeville, J.1    Lussier-Cacan, S.2    Davignon, J.3
  • 34
    • 0028230993 scopus 로고
    • High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: Possible association with apolipoprotein E2 isoform
    • Ma Y, Ooi TC, Liu MS, et al: High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform. J Lipid Res 1994;35:1066-75.
    • (1994) J Lipid Res , vol.35 , pp. 1066-1075
    • Ma, Y.1    Ooi, T.C.2    Liu, M.S.3
  • 35
    • 16944366335 scopus 로고    scopus 로고
    • Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy
    • Mailly F, Palmen J, Muller DPR, et al: Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. Hum Mutation 1997;10:465-73.
    • (1997) Hum Mutation , vol.10 , pp. 465-473
    • Mailly, F.1    Palmen, J.2    Muller, D.P.R.3
  • 36
    • 0024360286 scopus 로고
    • Avian adipose lipoprotein lipase: cDNA sequence and reciprocal regulation of mRNA levels in adipose and heart
    • Cooper DA, Stein JC, Strieleman PJ, et al: Avian adipose lipoprotein lipase: cDNA sequence and reciprocal regulation of mRNA levels in adipose and heart. Biochim Biophys Acta 1989;1008:92-101.
    • (1989) Biochim Biophys Acta , vol.1008 , pp. 92-101
    • Cooper, D.A.1    Stein, J.C.2    Strieleman, P.J.3
  • 37
    • 0023510142 scopus 로고
    • Molecular cloning and sequence analysis of cDNA encoding lipoprotein lipase of guinea pig
    • Enerback S, Semb H, Bengtsson-Olivecrona G, et al: Molecular cloning and sequence analysis of cDNA encoding lipoprotein lipase of guinea pig. Gene 1987;58:1-12.
    • (1987) Gene , vol.58 , pp. 1-12
    • Enerback, S.1    Semb, H.2    Bengtsson-Olivecrona, G.3
  • 38
    • 0025214976 scopus 로고
    • Isolation and characterization of the human hepatic lipase gene
    • Ameis D, Stahnke G, Kobayashi J, et al: Isolation and characterization of the human hepatic lipase gene. J Biol Chem 1990;265:655255.
    • (1990) J Biol Chem , vol.265 , pp. 655255
    • Ameis, D.1    Stahnke, G.2    Kobayashi, J.3
  • 39
    • 0025832067 scopus 로고
    • Rabbit hepatic lipase cDNA sequence: Low activity is associated with low messenger RNA levels
    • Warren RJ, Ebert DL, Mitchell A, et al: Rabbit hepatic lipase cDNA sequence: low activity is associated with low messenger RNA levels. J Lipid Res 1991;32:1333-9.
    • (1991) J Lipid Res , vol.32 , pp. 1333-1339
    • Warren, R.J.1    Ebert, D.L.2    Mitchell, A.3
  • 40
    • 0023240529 scopus 로고
    • Cloning of rat hepatic lipase cDNA: Evidence for a lipase gene family
    • Komaromy MC, Schotz MC: Cloning of rat hepatic lipase cDNA: evidence for a lipase gene family Proc Natl Acad Sci USA 1987;84:1526-30.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 1526-1530
    • Komaromy, M.C.1    Schotz, M.C.2
  • 41
    • 0025062291 scopus 로고
    • Structure of human pancreatic lipase
    • Winkler FK, D'Acry A, Hunziker W: Structure of human pancreatic lipase. Nature 1990;343:771-4.
    • (1990) Nature , vol.343 , pp. 771-774
    • Winkler, F.K.1    D'Acry, A.2    Hunziker, W.3
  • 42
    • 0019890873 scopus 로고
    • Porcine pancreatic lipase. Completion of the primary structure
    • de Caro J, Boudouard M, Bonicel J, et al: Porcine pancreatic lipase. Completion of the primary structure. Biochim Biophys Acta 1981;671:129-38.
    • (1981) Biochim Biophys Acta , vol.671 , pp. 129-138
    • De Caro, J.1    Boudouard, M.2    Bonicel, J.3
  • 43
    • 0012047122 scopus 로고
    • Mutations in the lipoprotein lipase gene are not restricted to patients with type 1 hyperlipidemia
    • Wiebusch H, Funke H, Kastelein JJP, et al: Mutations in the lipoprotein lipase gene are not restricted to patients with type 1 hyperlipidemia. Circulation 1992;86:I-609.
    • (1992) Circulation , vol.86
    • Wiebusch, H.1    Funke, H.2    Kastelein, J.J.P.3


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