Is familial combined hyperlipidaemia a genetic disorder of adipose tissue?

Current Opinion in Lipidology

Volumn 8, Issue 2, 1997, Pages 89-94

  Arner, Peter ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOLAMINE RECEPTOR; FATTY ACID; INSULIN RECEPTOR; LIPID; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL LIPASE;

ADIPOCYTE; ADIPOSE TISSUE; BLOOD CELL; DYSLIPIDEMIA; FAMILIAL HYPERLIPEMIA; FATTY ACID METABOLISM; FATTY ACID TRANSPORT; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HYPERLIPIDEMIA; HYPERTRIGLYCERIDEMIA; ISCHEMIC HEART DISEASE; LIPID METABOLISM; MOLECULAR GENETICS; PRIORITY JOURNAL; REGULATOR GENE; REVIEW;

ADIPOSE TISSUE; FATTY ACIDS; HUMANS; HYPERLIPIDEMIA, FAMILIAL COMBINED; LIPID METABOLISM; LIPOPROTEIN LIPASE;

EID: 0030959359     PISSN: 09579672     EISSN: None     Source Type: Journal    
DOI: 10.1097/00041433-199704000-00006     Document Type: Review

References (34)

1. Grundy SM, Chait A, Brunzell JD: Familial combined hyperlipidemia workshop. Arterioscler Thromb Vasc Biol 1987, 7:203-207.
2. Kwiterovich JR: Genetics and molecular biology of familial combined hyperlipidemia. Curr Opin Lipidol 1993, 4:133-143.
3. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG: Hyperlipidemia in coronary heart disease M. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder combined hyperlipidemia. J Clin Invest 1973, 52:1544-1568.
4. Cullen P, Farren B, Scott J, Tarrall M: Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1994, 14:1233-1241.
5. Castro Cabezas M, de Bruin TWA, Kock LAW, Kotlandt W, van Linde-Sibenius-Trip M, Jansen H, Erkelens DW: Simvastatin improves chylomicron remnant removal in familial combined hyperlipidemia without changing chylomicron conversion. Metab Clin Exp 1993, 42:497-503.
6. Castro Cabezas M, de Bruin TWA, de Valk HW, Shoulders CC, Hansen H, Ekelens EW: Impaired fatty acid metabolism in familial combined hyperlipidemia. A mechanism associating hepatic apolipoprotein B overproduction and insulin resistance. J Clin Invest 1993, 92:160-168.
7. Arner P, Eeckel RH: Adipose tissue as a storage organ. In Handbook of obesity. Edited by Bray GA, Bouchard C, James WP. New York: Marcel Dekker; 1997 (In press).
8. Abumrad NA, Melki SA, Harmon CM: Transport of fatty acid in isolated rat adipocyte and in differentiating preadipose cells. Biochem Soc Trans 1991, 18:1130-1132.
9. Cianflone K, Roncari DAK, Maslowska M, Saldo A, Forden J, Sniderman AD: Adipsin/acylation stimulating protein system in human adipocytes: regulation of triacylglycerol synthesis. Biochemistry 1994, 33:9489-9495.
10. Walldius G: Fatty acid incorporation into human adipose tissue (FIAT) in hypertriglyceridemia. Methodological, clinical and experimental studies. Acta Med Scand 1976, 591:1-47.
11. Amer P, Engfeldt P, Östman J: Changes in the metabolism of fatty acids in adipose tissue in obese patients with primary hypertriacylglycerolemia. J Lipid Res 1982, 23:422-427.
12. Amer P, Wahrenberg H, Lönnqvist F, Angelin B: Adipocyte β-adrenoceptor sensitivity influences plasma lipid levels. Arterioscler Thromb Vasc Biol 1993, 13:967-972.
13. Frayn KN, Williams CM, Arner P: Are increased plasma nonesterified fatty acid concentrations a risk marker for coronary heart disease and other chronic diseases. Clin Sci 1996, 90:243-253.
14. Teng B, Forse A, Rodriguez A, Kwiterovich PO Jr, Sniderman AD: Adipose tissue triglyceride synthesis in patients with hyperapobetallpoproteinemia. J Physiol Pharmacol 1988, 66:239-242.
15. Cianflone KM, Maslowska MH, Sniderman AD: Impaired response of fibroblasts from patients with hyperapobetalipoproeinemia to acylation-stimulating protein. J Clin Invest 1990, 85:722-730.
16. Reynisdottir S, Eriksson M, Angelin B, Amer P: Impaired activation of adipocyte lipolysis in familial combined hyperlipidemia. J Clin Invest 1995, 95:2161-2169.
17. Reynisdottir S, Angelin B, Langin D, Lithell H, Eriksson M, Holm C, Arner P: Adipose tissue lipoprotein lipase and hormone-sensitive lipase: contrasting findings in familial combined hyperlipidemia and the insulin resistance syndrome. Arterioscler Thromb Vasc Biol (In press).
18. Shimada M, Ishibashi S, Yamamoto K, Kawamura M, Watanabe Y, Gotoda T, Harada K, Inaba T, Ohsuga J, Yazaki Y, Yamada N: Overexpression of human lipoprotein lipase increases hormone-sensitive lipase activity in adipose tissue of mice. Biochem Biophys Res Commun 1995, 211:761-766.
19. Babirak SP, Iverius P-H, Fujimoto WY, Brunzell JD: Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arterioscler Thromb Vasc Biol 1989, 9:326-334.
20. Mailly F, Tugrul Y, Reymer PWA, Bruin T, Seed M, Groenemeyer BE, Asplund-Cartson A, Vallance D, Winder AF, Miller GJ et al.: A common variant in the gene for lipoprotein lipase (Asp9Asn): functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler Thromb Vasc Biol 1995, 15:468-478.
21. Reymer PWA, Groenemeyer BE, Gagné, Miao L, Appelman EEG, Seidel JC, Kromhout D, Bijvoet SM, van de Oever K, Bruin T et al.: A frequently occuring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum Mol Genet 1995, 9:1543-1549. Provides evidence that the Asn291Ser LPL gene mutation has increased frequency in FCHL, altering the lipoprotein phenotype above all in overweight individuals.
22. Hoffer MJV, Bredie SJH, Boomsma DI, Raymre PWA, Kastelein JJP, de Knijff P, Demacker PNM, Stalenhoef AFH, Havekes LM, Frants RR: The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidemia. Atheroscler Thromb Vasc Biol 1996, 199:159-167. Extensive family studies of the Asn291Ser LPL gene mutation showing association with elevated lipid levels in FCHL.
23. Reymer PWA, Gagne E, Groenemyer BE, Zhang H, Forsyth IJ, Jansen H, Seidel JC, Kromhout D, Lel KI, Kastelein JJP, Hayden MR: A mutation (Asn291Ser) in the human lipoprotein lipase is associated with reduced high density lipoprotein cholesterol (HDL) levels in patients with premature atherosclerosis. Nat Genet 1995, 10:28-33.
24. Wei-Shiung Y, Nevin DN, Peng R, Brunzell JD, Deeb SS: A mutation in the promotor of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci USA 1995, 92:4462-4466.
25. Goldberg IJ: Lipoprotein lipase and lipolysis: central roles in lipoprotein metabolism and atherogenesis. J Lipid Res 1996, 37:693-707.
26. Weinstock PH, Bisgaier CL, Aalto-Setälä K, Radner H, Rramakrishnan R, Levak-Frank S, Essenburg AD, Zechner R, Breslow JL: Severe hypertriglyceridemia, reduced high density lipoprotein and neonatal death in lipoprotein lipase knockout mice. J Clin Invest 1995, 96:2555-2568. An extensive study in LPL knockout mice showing, first, that a heterozygote knockout alters lipoprotein metabolism and, second, that expression of LPL in a single tissue is associated with a near-normal phenotype.
27. Shimada F, Makino H, Hashimoto N, Iwaoka H, Taira M, Nozaki O, Kanatsuka A, Holm C, Langin D, Saito Y: Detection of an amino acid polymorphism in hormone-sensitive lipase in Japanese subjects. Metabolism 1996, 45:862-864.
28. Bredie SJH, Tack CJJ, Smits P, Stalenholf AFH: Non-obese patients with familial combined hyperlipidemia are insulin resistant as compared with their non-affected relatives. Arterioscler Thromb Vasc Biol (In press).
29. Moller DE, Bjorbaek C, Vidal-Puig A: Candidate genes for insulin resistance. Diabetes Care 1996, 19:396-400.
30. Quon MJ, Butt AJ, Taylor I: Insulin signal transduction pathways. Trends Endocrinol Metab 1994, 5:369-376.
31. Clausen JO, Hansen T, Bjorbaek C, Echwald SM, Urhammer SA, Rasmussen S, Aandersen CB, Hansen L, Almind K, Winther K et al.: Insulin resistance: interactions between obesity and a common variant of insulin receptor substrate-1. Lancet 1995, 346: 397-402.
32. 3-adrenoceptor function.
33. 3-adrenergic-receptor gene with features of the insulin resistance syndrome in finns. N Engl J Med 1995, 333:348-351.
34. 3-adrenergic receptor gene. Diabetes 1996, 45:1115-1120.