Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia

Metabolism: Clinical and Experimental

Volumn 58, Issue 8, 2009, Pages 1178-1184

  Plengpanich, Wanee ^a,b   Siriwong, Satapakorn ^b   Khovidhunkit, Weerapan ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b THAMMASAT UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL ESTER TRANSFER PROTEIN; FATTY ACID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIVER TRIACYLGLYCEROL LIPASE;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENETIC ANALYSIS; GENETIC CONSERVATION; HETEROZYGOSITY; HUMAN; HYPERALPHALIPOPROTEINEMIA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; THAILAND;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHOLESTEROL ESTER TRANSFER PROTEINS; FEMALE; GENE DELETION; HUMANS; HYPERLIPOPROTEINEMIAS; LIPASE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEVERITY OF ILLNESS INDEX; THAILAND;

EID: 67749084417     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2009.03.020     Document Type: Article

References (27)

1. Barter P.J., and Rye K.A. Relationship between the concentration and antiatherogenic activity of high-density lipoproteins. Curr Opin Lipidol 17 (2006) 399-403
2. Linsel-Nitschke P., and Tall A.R. HDL as a target in the treatment of atherosclerotic cardiovascular disease. Nat Rev Drug Discov 4 (2005) 193-205
3. von Eckardstein A., Nofer J.R., and Assmann G. High density lipoproteins and arteriosclerosis. Role of cholesterol efflux and reverse cholesterol transport. Arterioscler Thromb Vasc Biol 21 (2001) 13-27
4. Fielding C.J., and Fielding P.E. Molecular physiology of reverse cholesterol transport. J Lipid Res 36 (1995) 211-228
5. von Eckardstein A., and Assmann G. High density lipoproteins and reverse cholesterol transport: lessons from mutations. Atherosclerosis 137 Suppl (1998) S7-S11
6. Miller M., and Zhan M. Genetic determinants of low high-density lipoprotein cholesterol. Curr Opin Cardiol 19 (2004) 380-384
7. Yamashita S., Maruyama T., Hirano K., et al. Molecular mechanisms, lipoprotein abnormalities and atherogenicity of hyperalphalipoproteinemia. Atherosclerosis 152 (2000) 271-285
8. Maruyama T., Sakai N., Ishigami M., et al. Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia. Atherosclerosis 166 (2003) 177-185
9. Hill S.A., Nazir D.J., Jayaratne P., et al. Mutations in cholesteryl ester transfer protein and hepatic lipase in a North American population. Clin Biochem 30 (1997) 413-418
10. Miettinen H.E., Gylling H., Tenhunen J., et al. Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels. Arterioscler Thromb Vasc Biol 18 (1998) 591-598
11. Teh E.M., Dolphin P.J., Breckenridge W.C., et al. Human plasma CETP deficiency: identification of a novel mutation in exon 9 of the CETP gene in a Caucasian subject from North America. J Lipid Res 39 (1998) 442-456
12. Rhyne J., Ryan M.J., White C., et al. The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease. J Mol Med 84 (2006) 647-650
13. van der Steeg W.A., Hovingh G.K., Klerkx A.H., et al. Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians. J Lipid Res 48 (2007) 674-682
14. Kuusi T., Ehnholm C., Viikari J., et al. Postheparin plasma lipoprotein and hepatic lipase are determinants of hypo- and hyperalphalipoproteinemia. J Lipid Res 30 (1989) 1117-1126
15. Hegele R.A., Little J.A., Vezina C., et al. Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. Arterioscler Thromb 13 (1993) 720-728
16. Hirano K., Yamashita S., Kuga Y., et al. Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. Arterioscler Thromb Vasc Biol 15 (1995) 1849-1856
17. Sich D., Saidi Y., Giral P., et al. Hyperalphalipoproteinemia: characterization of a cardioprotective profile associating increased high-density lipoprotein 2 levels and decreased hepatic lipase activity. Metabolism 47 (1998) 965-973
18. Gehrisch S., Kostka H., Tiebel M., et al. Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. J Mol Med 77 (1999) 728-734
19. Tilly-Kiesi M., Schaefer E.J., Knudsen P., et al. Lipoprotein metabolism in subjects with hepatic lipase deficiency. Metabolism 53 (2004) 520-525
20. Taenwong S., Sitprija S., and Santiyanont R. Reference range of serum lipids and lipoproteins according to age and sex. Chula Med J 32 (1988) 55-66
21. Krauss R.M., Levy R.I., and Fredrickson D.S. Selective measurement of two lipase activities in postheparin plasma from normal subjects and patients with hyperlipoproteinemia. J Clin Invest 54 (1974) 1107-1124
22. Ogino S., Gulley M.L., den Dunnen J.T., et al. Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 9 (2007) 1-6
23. Thomas P.D., Campbell M.J., Kejariwal A., et al. PANTHER: a library of protein families and subfamilies indexed by function. Genome Res 13 (2003) 2129-2141
24. Brunham L.R., Singaraja R.R., Pape T.D., et al. Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. PLoS Genetics 1 (2005) 0739-0747
25. Hegele R.A., Tu L., and Connelly P.W. Human hepatic lipase mutations and polymorphisms. Hum Mutat 1 (1992) 320-324
26. Derewenda Z.S., and Cambillau C. Effects of gene mutations in lipoprotein and hepatic lipases as interpreted by a molecular model of the pancreatic triglyceride lipase. J Biol Chem 266 (1991) 23112-23119
27. Perret B., Mabile L., Martinez L., et al. Hepatic lipase: structure/function relationship, synthesis, and regulation. J Lipid Res 43 (2002) 1163-1169