Heterozygosity for Asn291 → Ser mutation in the lipoprotein lipase gene in two Finnish pedigrees: Effect of hyperinsulinemia on the expression of hypertriglyceridemia

Journal of Lipid Research

Volumn 37, Issue 4, 1996, Pages 727-738

  Syvanne M ^a   Antikainen, M ^a   Ehnholm, S ^b   Tenkanen, H ^b   Lahdenpera S ^a   Ehnholm, C ^b   Taskinen, M R ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

Dyslipidemia; Insulin resistance; LPL deficiency

Indexed keywords

INSULIN; LIPOPROTEIN LIPASE; PRIMER DNA; APOLIPOPROTEIN; ASPARAGINE; HEPARIN; LIPID; LIPOPROTEIN; MUTANT PROTEIN; SERINE; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD; CASE CONTROL STUDY; CHILD; ENZYMOLOGY; FEMALE; FINLAND; GENE EXPRESSION; GENETICS; HETEROZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; MALE; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; AMINO ACID SUBSTITUTION; ANIMAL CELL; CONTROLLED STUDY; DYSLIPIDEMIA; ENZYME ACTIVITY; HETEROZYGOSITY; HYPERINSULINEMIA; MAJOR CLINICAL STUDY; NONHUMAN; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; DNA PRIMERS; FEMALE; FINLAND; GENE EXPRESSION; HETEROZYGOTE; HUMANS; HYPERTRIGLYCERIDEMIA; INSULIN; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION;

EID: 0029658941     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Eckel, R. H. 1989. Lipoprotein lipase: a multifunctional enzyme relevant to common metabolic diseases. N. Engl. J. Med. 320: 1060-1068.
2. Taskinen, M-R., and T. Kuusi. 1987. Enzymes involved in triglyceride hydrolysis. Baillieres Clin. Endocrinol. Metabolism. 1: 639-666.
3. Braun, J. E. A., and D. L. Severson. 1992. Regulation of the synthesis, processing and translocation of lipoprotein lipase. Biochem. J. 287: 337-347.
4. Olivecrona, T., and G. Bengtsson-Olivecrona. 1990. Lipases involved in lipoprotein metabolism. Curr. Opin. Lipidol. 1: 116-122.
5. Wang, C-S., J. Hartsuck, and W. J. McConalthy. 1992. Structure and functional properties of lipoprotein lipase. Biochim. Biophys. Acta. 1123: 1-17.
6. Santamarina-Fojo, S. 1992. Genetic dyslipoproteinemias: role of lipoprotein lipase and apolipoprotein C-II. Curr. Opin. Lipidol. 3: 186-195.
7. Krauss, R. M., P. N. Herbert, R. I. Levy, and D. S. Fredrickson. 1973. Further observations on the activation and inhibition of lipoprotein lipase by apolipoproteins. Circ. Res. 33: 403-411.
8. McConathy, W. J., J. C. Gesquiere, H. Bass, A. Tartar, J-C. Fruchart, and C-S. Wang. 1992. Inhibition of lipoprotein lipase activity by synthetic peptides of apolipoprotein C-III. J. Lipid Res. 33: 995-1003.
9. Huttunen, J. K., C. Ehnholm, P. K. J. Kinnunen, and E. A. Nikkilä. 1975. An immunochemical method for the selective measurement of two triglyceride lipases in human postheparin plasma. Clin. Chim. Acta. 63: 335-347.
10. Sparkes, R. S., S. Zollman, I. Klisak, T. G. Kirchgessner, M. C. Komaromy, T. Mohandas, M. C. Schotz, and A. J. Lusis. 1987. Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics. 1: 138-144.
11. Kirchgessner, T. G., K. L. Svenson, A. J. Lusis, and M. C. Schotz. 1987. The sequence of cDNA encoding lipoprotein lipase: a member of a lipase gene family. J. Biol. Chem. 262: 8463-8466.
12. Deeb, S. S., and R. Peng. 1989. Structure of the human lipoprotein lipase gene. Biochemistry. 28: 4131-4135.
13. Auwerx, J., P. Leroy, and K. Schoonjans. 1992. Lipoprotein lipase: recent contributions from molecular biology. Crit. Rev. Clin. Lab. Sci. 29: 243-268.
14. Antikainen, M., H. Tenkanen, M-R. Taskinen, and C. Ehnholm. 1995. Mutations affecting human lipoprotein lipase gene. Z. Gastroenterol. (Suppl. 3): 1-3.
15. Ma, Y., H. Zhang, M-S. Liu, J. Frohlich, J. D. Brunzell, and M. R. Hayden. 1993. Type III hyperlipoproteinemia in apoE2/2 homozygotes: possible role of mutations in the lipoprotein lipase gene. Circulation 88[part2]: I-179 (abstract).
16. Zhang, H., P. W. A. Reymer, M-S. Liu, I. J. Forsythe, B. E. Groenemeyer, J. Frohlich, J. D. Brunzell, J. J. P. Kastelein, M. R. Hayden, and Y. Ma. 1995. Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291 → Ser mutation in the human LPL gene. Arterioscler. Thromb. Vasc. Biol. 15: 1695-1703.
17. Minnich, A., A. Kessling, M. Roy, C. Giry, G. DeLangavant, J. Lavigne, S. Lussier-Cacan, and J. Davignon. 1995. Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent. J. Lipid Res. 36: 117-124.
18. Reymer, P. W. A., E. Gagné, B. E. Groenemeyer, H. Zhang, I. Forsyth, H. Jansen, J. C. Seidell, D. Kromhaut, K. E. Lie, J. Kastelein, and M. R. Heyden. 1995. Alipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat. Genet. 10: 28-34.
19. Reymer, P. W. A., B. E. Groenemeyer, E. Gagné, L. Miao, E. E. G. Appleman, J. C. Seidel, D. Kromhout, S. M. Bijvoet, K. van de Oever, T. Bruin, M. R. Hayden, and J. J. P. Kastelein. 1995. A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum. Mol. Genet. 4: 1543-1549.
20. Havekes, L., P. de Knijeff, U. Beisiegel, J. Havinga, M. Smit, and E. Klasen. 1987. A rapid micromethod for apolipoprotein E phenotyping directly in serum. J. Lipid Res. 28: 455-463.
21. Nichols, A. V., R. M. Krauss, and T. A. Musliner. 1986. Nondenaturing polyacrylamide gradient gel electrophoresis. Methods Enzymol. 128: 417-431.
22. Lahdenperä, S., J. Puolakka, T. Pyörälä, H. Luotola, and M-R. Taskinen. 1996. Effects of postmenopausal estrogen/progestin replacement therapy on LDL particles: comparison of transdermal and oral replacement regimens. Atherosclerosis. In press.
23. Antikainen, M., C. Holmberg, T. Olivecrona, G. Bengtsson-Olivecrona, C. Labeur, M. Rosseneu, and M-R. Taskinen. 1993. Changes in biological activity and immunoreactive mass of lipoprotein lipase in congenital nephrosis: relationship to hypertriglyceridaemia. Eur. J. Clin. Invest. 23: 368-374.
24. Mullis, K. B., and F. A. Faloona. 1987. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 155: 335-350.
25. Beaucage, S. L., and M. H. Caruthers. 1982. Deoxynucleoside phosphoramidites - a new class of key intermediates to deoxypolynucleotide synthesis. Tetrahedron Lett. 22: 1859-1862.
26. Tenkanen, H., M-R. Taskinen, M. Antikainen, I. Ulmanen, K. Kontula, and C. Ehnholm. 1994. A novel amino acid substitution (His183 → G1n) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state. J. Lipid Res. 35: 220-228.
27. Orita, M., Y. Suzuki, T. Sekiya, and K. Hayashi. 1989. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5: 874-879.
28. Sanger, F., A. R. Coulson, B. G. Barrell, A. J. H. Smith, and B. A. Roe. 1980. Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing. J. Mol. Biol. 143: 161-178.
29. Casanova, J-L., C. Pannetier, C. Jaulin, and P. Kourilsky. 1990. Optimal conditions for directly sequencing double-stranded PCR products with Sequenase. Nucleic Acids Res. 18: 4028.
30. Syvänen, A-C., K. Aalto-Setälä, L. Haiju, K. Kontula, and H. Söderlund. 1990. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics. 8: 684-692.
31. Bengtström, M., A. Jungell-Nortamo, and A-C. Syvänen. 1990. Biotinylation of oligonucleotides using a water-soluble biotin ester. Nucleosides Nucleotides. 9: 123-127.
32. Wion, K. L., T. G. Kirchgessner, A. J. Lusis, M. C. Schotz, and R. M. Lawn. 1987. Human lipoprotein lipase complementary DNA sequence. Science. 235: 1638-1641.
33. Taylor, J. W., J. Ott, and F. Eckstein. 1985. The rapid generation of oligonucleotide-directed mutations at high frequency using phosphorothioate-modified DNA. Nucleic Acids Res. 13: 8765-8785.
34. Feigner, P. L., T. R. Gadek, M. Holm, R. Roman, H. W. Chan, M. Wenz, J. P. Northrop, G. M. Ringold, and M. Danielsen. 1987. Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure. Proc. Natl. Acad. Sci. USA. 84: 7413-7417.
35. SYSTAT for Windows. 1992. Statistics, Version 5 Edition. Systat Inc., Evanston, IL. 210-379.
36. Buscà, R., J. Peinado, E. Vilella, J. Auwerx, S. S. Deeb, S. Vilaró, and M. Reina. 1995. The mutant Asn291 → Ser human lipoprotein lipase is associated with reduced catalytic activity and does not influence binding to heparin. FEES Lett. 367: 257-262.
37. Laakso, M. 1993. How good a marker is insulin level for insulin resistance? Am. J. Epidemiol. 137: 959-965.
38. DeFronzo, R. A., and E. Ferrannini. 1991. Insulin resistance: a multifaceted syndrome responsible for NIDDM, obesity, hypertension, dyslipidemia, and atherosclerotic cardiovascular disease. Diabetes Care. 14: 173-194.
39. Howard, B. V. 1987. Lipoprotein metabolism in diabetes mellitus. J. Lipid Res. 28: 613-628.
40. Taskinen, M-R. 1990. Hyperlipidaemia in diabetes. Baillieres Clin. Endocrinol. Metab. 4: 743-775.
41. Coppack, S. W., M. D. Jensen, and J. M. Miles. 1994. In vivo regulation of lipolysis in humans, J. Lipid Res. 35: 177-193.
42. Björntorp, P. 1994. Fatty acids, hyperinsulinemia, and insulin resistance: which comes first? Curr. Opin. Lipidol. 5: 166-174.
43. Frayn, K. N. 1993. Insulin resistance and lipid metabolism. Curr. Opin. Lipidol. 4: 197-204.
44. Grundy, S. M., and G. L. Vega. 1992. Two different views of the relationship of hypertriglyceridemia to coronary heart disease: implications for treatment. Arch. Intern. Med. 152: 28-34.
45. Patsch, J. R., S. Prasad, A. M. Gotto, Jr., and G. Bengtsson-Olivecrona. 1984. Postprandial lipemia: a key for the conversion of high density lipoproteino into high density lipoproteins by hepatic lipase. J. Clin. Invest. 74: 2017-2023.
46. Lalouel, J-M., D. E. Wilson, and P-H. Iverius. 1992. Lipoprotein lipase and hepatic triglyceride lipase: molecular and genetic aspects. Curr. Opin. Lipidol. 3: 86-95.