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Volumn 37, Issue 8, 1996, Pages 1675-1684

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers

Author keywords

chylomicron; lipoprotein lipase; normolipidemic; oral fat load; postprandial response

Indexed keywords

APOLIPOPROTEIN C2; APOLIPOPROTEIN E; CHYLOMICRON; HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INTERMEDIATE DENSITY LIPOPROTEIN; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RETINOL PALMITATE; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 0029815358     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (48)

References (40)
  • 1
    • 0001033625 scopus 로고
    • Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
    • C. R. Scriver, A. L. Beaudet, W. S. Sly and D. Valle, editors. McGraw-Hill Book Co., New York
    • Brunzell, J. D. 1995. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In The Metabolic Basis of Inherited Disease. 7th ed. C. R. Scriver, A. L. Beaudet, W. S. Sly and D. Valle, editors. McGraw-Hill Book Co., New York. Volume II. 1913-1932.
    • (1995) The Metabolic Basis of Inherited Disease. 7th Ed. , vol.2 , pp. 1913-1932
    • Brunzell, J.D.1
  • 2
    • 0026768077 scopus 로고
    • Molecular genetics of lipoprotein lipase deficiency
    • Hayden, M. R., and Y. Ma. 1990. Molecular genetics of lipoprotein lipase deficiency. Mol. Cell. Biochem. 113: 171-176.
    • (1990) Mol. Cell. Biochem. , vol.113 , pp. 171-176
    • Hayden, M.R.1    Ma, Y.2
  • 3
    • 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., T. C. Ooi, M. S. Liu, H. Zhang, R. McPherson, A. L. Edwards, I. J. Forsythe, J. Frohlich, J. D. Brunzell, and M. R. Hayden. 1994. High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform. J. Lipid Res. 35: 1066-1075.
    • (1994) J. Lipid Res. , vol.35 , pp. 1066-1075
    • Ma, Y.1    Ooi, T.C.2    Liu, M.S.3    Zhang, H.4    McPherson, R.5    Edwards, A.L.6    Forsythe, I.J.7    Frohlich, J.8    Brunzell, J.D.9    Hayden, M.R.10
  • 7
    • 0027535752 scopus 로고
    • Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities
    • Miesenböck, G., B. Hölzl, B. Foger, E. Brandstatter, B. Paulweber, F. Sandhofer, and J. R. Patsch. 1993. Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J. Clin. Invest. 91: 448-455.
    • (1993) J. Clin. Invest. , vol.91 , pp. 448-455
    • Miesenböck, G.1    Hölzl, B.2    Foger, B.3    Brandstatter, E.4    Paulweber, B.5    Sandhofer, F.6    Patsch, J.R.7
  • 9
    • 0024582554 scopus 로고
    • Postprandial lipemia and chylomicron clearance in athletes and in sedentary men
    • Cohen, J. C., T. D. Noakes, and A. J. Spinnler Benade. 1989. Postprandial lipemia and chylomicron clearance in athletes and in sedentary men. Am. J. Clin. Nutr. 49: 443-447.
    • (1989) Am. J. Clin. Nutr. , vol.49 , pp. 443-447
    • Cohen, J.C.1    Noakes, T.D.2    Spinnler Benade, A.J.3
  • 10
    • 0003544906 scopus 로고
    • Washington D.C., U.S. Department of Health, Education and Welfare. 1982. Publication (NIH)
    • Lipid Research Clinics Program. 1982. Manual of Laboratory Operations: Lipid and Lipoprotein Analysis. Washington D.C., U.S. Department of Health, Education and Welfare. 1982. Publication (NIH) 75-628.
    • (1982) Manual of Laboratory Operations: Lipid and Lipoprotein Analysis , pp. 75-628
  • 11
    • 0024549783 scopus 로고
    • The Centers for Disease Control National Heart, Lung, and Blood Institute Lipid Standardization Program: An approach to accurate and precise lipid measurements
    • Myers, G. L., G. R. Cooper, C. L. Winn, and S. J. Smith. 1989. The Centers for Disease Control National Heart, Lung, and Blood Institute Lipid Standardization Program: an approach to accurate and precise lipid measurements. Clin. Lab. Med. 9: 105-135.
    • (1989) Clin. Lab. Med. , vol.9 , pp. 105-135
    • Myers, G.L.1    Cooper, G.R.2    Winn, C.L.3    Smith, S.J.4
  • 12
    • 0017811544 scopus 로고
    • A comprehensive evaluation of the heparin manganese precipitation procedure for estimating high-density lipoprotein cholesterol
    • Warnick, G. R., and J. J. Albers. 1978. A comprehensive evaluation of the heparin manganese precipitation procedure for estimating high-density lipoprotein cholesterol. J. Lipid Res. 19: 65-76.
    • (1978) J. Lipid Res. , vol.19 , pp. 65-76
    • Warnick, G.R.1    Albers, J.J.2
  • 13
    • 0023461362 scopus 로고
    • An international collaborative study on standardization of apolipoproteins A-I and B
    • Smith, S. J., G. R. Cooper, L. O. Henderson, and W. H. Hannon. 1987. An international collaborative study on standardization of apolipoproteins A-I and B. Clin. Chem. 33: 2240-2251.
    • (1987) Clin. Chem. , vol.33 , pp. 2240-2251
    • Smith, S.J.1    Cooper, G.R.2    Henderson, L.O.3    Hannon, W.H.4
  • 14
    • 0024989085 scopus 로고
    • Differential electroimmunoassay of human LpA-I lipoprotein particles on ready-to-use plates
    • Parra, H. J., G. Mezdourh, J. M. Bard, and J. C. Fruchart. 1990. Differential electroimmunoassay of human LpA-I lipoprotein particles on ready-to-use plates. Clin. Chem. 36: 1431-1435.
    • (1990) Clin. Chem. , vol.36 , pp. 1431-1435
    • Parra, H.J.1    Mezdourh, G.2    Bard, J.M.3    Fruchart, J.C.4
  • 15
    • 0017202148 scopus 로고
    • A stable, radioactive substrate emulsion for assay of lipoprotein lipase
    • Nilssohn-Ehle, P., and M. C. Scholtz. 1976. A stable, radioactive substrate emulsion for assay of lipoprotein lipase. J. Lipid Res. 17: 536-541.
    • (1976) J. Lipid Res. , vol.17 , pp. 536-541
    • Nilssohn-Ehle, P.1    Scholtz, M.C.2
  • 16
    • 0024383955 scopus 로고
    • Detection and characterization of heterozygous state for lipoprotein lipase deficiency
    • Babirak, S. P., P. H. Iverius, W. Y. Fujimoto, and J. D. Brunzell. 1989. Detection and characterization of heterozygous state for lipoprotein lipase deficiency. Arteriosclerosis. 9: 326-334.
    • (1989) Arteriosclerosis , vol.9 , pp. 326-334
    • Babirak, S.P.1    Iverius, P.H.2    Fujimoto, W.Y.3    Brunzell, J.D.4
  • 17
    • 0024791277 scopus 로고
    • An efficient salt-chloroform extraction of DNA from blood and tissue
    • Technical Tips. 1989. An efficient salt-chloroform extraction of DNA from blood and tissue. Trends Genet. 5: 391.
    • (1989) Trends Genet. , vol.5 , pp. 391
    • Tips, T.1
  • 19
    • 0028174814 scopus 로고
    • DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population
    • Mattu, R. K. E. W. A. Needham, R. Morgan, A. Rees, A. K. Hackshaw, J. Stocks, P. C. Elwood, and D. J. Galton. 1994. DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population. Arterioscler. Thromb. 14: 1090-1097.
    • (1994) Arterioscler. Thromb. , vol.14 , pp. 1090-1097
    • Mattu, R.K.E.1    Needham, W.A.2    Morgan, R.3    Rees, A.4    Hackshaw, A.K.5    Stocks, J.6    Elwood, P.C.7    Galton, D.J.8
  • 20
    • 0028167760 scopus 로고
    • Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler
    • Gagné, S. E., J. Genest, Jr., H. Zhang, L. A. Clarke, and M. R. Hayden. 1994. Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler. Thromb. 14: 1250-1257.
    • (1994) Thromb. , vol.14 , pp. 1250-1257
    • Gagné, S.E.1    Genest Jr., J.2    Zhang, H.3    Clarke, L.A.4    Hayden, M.R.5
  • 21
    • 0026059575 scopus 로고
    • Apolipoprotein e genotyping using the polymerase chain reaction and allele-specific oligonucleotide primers
    • Main, B. F., P. J. H. Jones, R. T. A. MacGillivray, and D. K. Banfield. 1991. Apolipoprotein E genotyping using the polymerase chain reaction and allele-specific oligonucleotide primers. J. Lipid Res. 32: 183-187.
    • (1991) J. Lipid Res. , vol.32 , pp. 183-187
    • Main, B.F.1    Jones, P.J.H.2    MacGillivray, R.T.A.3    Banfield, D.K.4
  • 22
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein e by gene amplification and cleavage with HhaI
    • Hixson, J. E., and T. E. Vernier. 1990. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J. Lipid Res. 31: 545-548.
    • (1990) J. Lipid Res. , vol.31 , pp. 545-548
    • Hixson, J.E.1    Vernier, T.E.2
  • 23
    • 0019570936 scopus 로고
    • Changes in serum lipids, lipoproteins and heparin releasable lipolytic enzymes during moderate physical training in man: A longitudinal study
    • Peltonen, P., J. Marniemi, E. Hietanen, I. Vuori, and C. Enholm. 1981. Changes in serum lipids, lipoproteins and heparin releasable lipolytic enzymes during moderate physical training in man: a longitudinal study. Metabolism. 30: 518-526.
    • (1981) Metabolism , vol.30 , pp. 518-526
    • Peltonen, P.1    Marniemi, J.2    Hietanen, E.3    Vuori, I.4    Enholm, C.5
  • 24
    • 0018163729 scopus 로고
    • Lipoprotein lipase activity in adipose tissue and skeletal muscle of runners: Relation to serum lipoproteins
    • Nikkilä, E. A., M-R. Taskinen, S. Rehunen, and M. Härkönen. 1978. Lipoprotein lipase activity in adipose tissue and skeletal muscle of runners: relation to serum lipoproteins. Metabolism. 27: 1661-1667.
    • (1978) Metabolism , vol.27 , pp. 1661-1667
    • Nikkilä, E.A.1    Taskinen, M.-R.2    Rehunen, S.3    Härkönen, M.4
  • 25
    • 0021991829 scopus 로고
    • Training-induced changes in serum lipids, fat tolerance, and adipose tissue metabolism in patients with hypertriglyceridemia
    • Wirth, A., C. Diehm, W. Hanel, J. Welte, and I. Vogel. 1985. Training-induced changes in serum lipids, fat tolerance, and adipose tissue metabolism in patients with hypertriglyceridemia. Atherosclerosis. 54: 263-271.
    • (1985) Atherosclerosis , vol.54 , pp. 263-271
    • Wirth, A.1    Diehm, C.2    Hanel, W.3    Welte, J.4    Vogel, I.5
  • 26
    • 0026778867 scopus 로고
    • Role of basal triglyceride and high density lipoprotein in determination of postprandial lipid and lipoprotein responses
    • O'Meara, N. M., G. F. Lewis, V. G. Cabana, P. H. Iverius, G. S. Getz, and K. S. Polonsky. 1992. Role of basal triglyceride and high density lipoprotein in determination of postprandial lipid and lipoprotein responses. J. Clin. Endocrinol. Metab. 75: 465-471.
    • (1992) J. Clin. Endocrinol. Metab. , vol.75 , pp. 465-471
    • O'Meara, N.M.1    Lewis, G.F.2    Cabana, V.G.3    Iverius, P.H.4    Getz, G.S.5    Polonsky, K.S.6
  • 28
    • 0025850858 scopus 로고
    • Dissociation between postprandial lipemia and high density lipoprotein cholesterol concentrations in endurance-trained men
    • Cohen, J. C., J. Stray-Gunderson, and S. M. Grundy. 1991. Dissociation between postprandial lipemia and high density lipoprotein cholesterol concentrations in endurance-trained men. Arterioscler. Thromb. 11: 838-843.
    • (1991) Arterioscler. Thromb. , vol.11 , pp. 838-843
    • Cohen, J.C.1    Stray-Gunderson, J.2    Grundy, S.M.3
  • 29
    • 0028058164 scopus 로고
    • Enrichment with apolipoprotein e characterizes postprandial TG-rich lipoproteins in patients with non-insulin-dependent diabetes mellitus and coronary artery disease: A preliminary report
    • Syvänne, M., M. Rosseneu, C. Labeur, H. Hilden, and M-R. Taskinen. 1993. Enrichment with apolipoprotein E characterizes postprandial TG-rich lipoproteins in patients with non-insulin-dependent diabetes mellitus and coronary artery disease: a preliminary report. Atherosclerosis. 105: 25-34.
    • (1993) Atherosclerosis , vol.105 , pp. 25-34
    • Syvänne, M.1    Rosseneu, M.2    Labeur, C.3    Hilden, H.4    Taskinen, M.-R.5
  • 30
    • 0029046821 scopus 로고
    • The lowdown on lipoprotein lipase
    • Funke, H., and G. Assmann. 1995. The lowdown on lipoprotein lipase. Nat. Genet. 10: 6-7.
    • (1995) Nat. Genet. , vol.10 , pp. 6-7
    • Funke, H.1    Assmann, G.2
  • 31
    • 0026354756 scopus 로고
    • The effect of fasting triacylglyceride concentration and apolipoprotein e polymorphism on postprandial lipemia
    • Brown, A. J., and D. C. K. Roberts. 1991. The effect of fasting triacylglyceride concentration and apolipoprotein E polymorphism on postprandial lipemia. Arterioscler. Thromb. 11: 1737-1744.
    • (1991) Arterioscler. Thromb. , vol.11 , pp. 1737-1744
    • Brown, A.J.1    Roberts, D.C.K.2
  • 32
    • 0023124385 scopus 로고
    • Catabolism of chylomicron remnants in normolipidemic subjects in relation to the apolipoprotein e phenotype
    • Brenninkmeijer, B. J., P. M. J. Stuyt, P. N. M. Demacker, A. F. H. Stalenhoef, and A. van't Laar. 1987. Catabolism of chylomicron remnants in normolipidemic subjects in relation to the apolipoprotein E phenotype. J. Lipid Res. 28: 361-370.
    • (1987) J. Lipid Res. , vol.28 , pp. 361-370
    • Brenninkmeijer, B.J.1    Stuyt, P.M.J.2    Demacker, P.N.M.3    Stalenhoef, A.F.H.4    Van't Laar, A.5
  • 33
    • 0023481281 scopus 로고
    • Dietary fat clearance in normal subjects is regulated by genetic variation in apolipoprotein e
    • Weintraub, M. S., S. Eisenberg, and J. L. Breslow. 1987. Dietary fat clearance in normal subjects is regulated by genetic variation in apolipoprotein E. J. Clin. Invest. 80: 1571-1577.
    • (1987) J. Clin. Invest. , vol.80 , pp. 1571-1577
    • Weintraub, M.S.1    Eisenberg, S.2    Breslow, J.L.3
  • 34
    • 0027958475 scopus 로고
    • Apolipoprotein e polymorphism influences postprandial retinyl palmitate but not triglyceride concentrations
    • Boerwinkle, E., S. Brown, A. R. Sharret, G. Heiss, and W. Patsch. 1994. Apolipoprotein E polymorphism influences postprandial retinyl palmitate but not triglyceride concentrations. Am. J. Hum. Genet. 54: 341-360.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 341-360
    • Boerwinkle, E.1    Brown, S.2    Sharret, A.R.3    Heiss, G.4    Patsch, W.5
  • 35
    • 0026481092 scopus 로고
    • Sex differences in postabsorptive plasma vitamin a transport
    • Johnson, E. J., S. D. Krasinski, and R. M. Russell. 1992. Sex differences in postabsorptive plasma vitamin A transport. Am. J. Clin. Nutr. 56: 911-916.
    • (1992) Am. J. Clin. Nutr. , vol.56 , pp. 911-916
    • Johnson, E.J.1    Krasinski, S.D.2    Russell, R.M.3
  • 36
    • 0028225873 scopus 로고
    • Transgenic mice expressing human lipoprotein lipase driven by the mouse metallothionein promoter
    • Zsigmond, E., E. Scheffler, T. M. Forte, R. Potenz, W. Wu, and L. Chan. 1994. Transgenic mice expressing human lipoprotein lipase driven by the mouse metallothionein promoter. J. Biol. Chem. 269: 18757-18766.
    • (1994) J. Biol. Chem. , vol.269 , pp. 18757-18766
    • Zsigmond, E.1    Scheffler, E.2    Forte, T.M.3    Potenz, R.4    Wu, W.5    Chan, L.6
  • 39
    • 0021954138 scopus 로고
    • Modulation of lipoprotein lipase activity by apolipoproteins: Effect of apolipoprotein C-III
    • Wang, C-S., W. J. McConathy, H. U. Kloer, and P. Alaupovic. 1985. Modulation of lipoprotein lipase activity by apolipoproteins: effect of apolipoprotein C-III. J. Clin. Invest. 75: 384-390.
    • (1985) J. Clin. Invest. , vol.75 , pp. 384-390
    • Wang, C.-S.1    McConathy, W.J.2    Kloer, H.U.3    Alaupovic, P.4
  • 40


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