Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia

Atherosclerosis

Volumn 150, Issue 2, 2000, Pages 421-428

  Raal, Frederick J ^a   Pappu, Anuradha S ^b   Illingworth, D Roger ^b   Pilcher, Gillian J ^a   Marais, A David ^c   Firth, Jean C ^c   Kotze, Maritha J ^d   Heinonen, Therese M ^e   Black, Donald M ^e  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b Diabetes Clinical Nutrition   (United States)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d UNIVERSITY OF STELLENBOSCH   (South Africa)

^e PFIZER INC   (United States)

Author keywords

Atorvastatin; Cholesterol synthesis; Homozygous familial hypercholesterolaemia; Mevalonic acid

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; ATORVASTATIN; CREATINE KINASE; DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MEVALONIC ACID; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG BLOOD LEVEL; DRUG EFFICACY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; HOMOZYGOTE; HUMAN; LIPID BLOOD LEVEL; MALE; PRIORITY JOURNAL; URINARY EXCRETION;

EID: 0034111843     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(99)00435-9     Document Type: Article

References (33)

1. Goldstein J.L., Brown M.S. Familial hypercholesterolaemia. Stanburg J.B., Wyngaarden J.B., Fredrickson D.S. The Metabolic Basis of Inherited Disease. 7th edn:1992;1215-1250 McGraw-Hill, New York.
2. Allen J.M., Thompson G.R., Myant N.B., Steiner R., Oakley C.M. Cardiovascular complications of homozygous familial hypercholesterolaemia. Br. Heart J. 44:1980;361-368.
3. Raal F.J., Pilcher G.J., Illingworth D.R., Pappu A.S., Stein E.A., Laskarzewski P., Mitchel Y.B., Melino M.R. Expanded-dose simvastatin is effective in homozygous familial hypercholesterolaemia. Atherosclerosis. 135:1997;249-256.
4. Marais A.D., Naoumova R.P., Firth J.C., Penny C., Neuwirth C.K.Y., Thompson G.R. Decreased production of low density lipoprotein by atorvastatin in homozygous familial hypercholesterolaemia. J. Lipid Res. 38:1997;2071-2078.
5. Kopito R.R., Weinstock S.B., Freed L.E., Murray D.M., Brunengraber H. Metabolism of mevalonate in rats and humans. J. Lipid Res. 23:1982;577-583.
6. Parker T.S., McNamara D.J., Brown C., Garrigan D., Kolb R., Batwin H., Ahrens E.H. Mevalonic acid in human plasma: relationship of concentration and circadian rhythm to cholesterol synthesis rates in man. Proc. Natl. Acad. Sci. USA. 79:1982;3037-3041.
7. Pappu A.S., Illingworth D.R. Contrasting effects of lovastatin and cholestyramine on low-density lipoprotein cholesterol and 24-h urinary mevalonate excretion in patients with heterozygous familial hypercholesterolaemia. J. Lab. Clin. Med. 114:1989;554-562.
8. Jones P.J.H., Pappu A.S., Illingworth D.R., Leitch C.A. Correspondence between plasma mevalonic acid levels and deuterium uptake in measuring human cholesterol synthesis. Eur. J. Clin. Invest. 22:1992;609-613.
9. Parker T.S., McNamara D.J., Brown C.D., Kolb R., Ahrens E.H., Alberts A.W., Tolbert J., Chen J., Schepper P.J. Plasma mevalonate as a measure of cholesterol biosynthesis in man. J. Clin. Invest. 74:1984;795-804.
10. Kotze M.J., Theart L., Callis M., Peeters A.V., Thiart R., Langenhoven E. Nonradioactive multiplex PCR screening strategy for simultaneous detection of multiple low-density lipoprotein receptor gene mutations. PCR Methods Appl. 4:1995;352-356.
11. Rubinsztein D.C., Coetzee G.A., Marais A.D., Leitersdorf E., Seftel H.C., van der Westhuyzen D.R. Identification and properties of the proline 664-leucine mutant LDL receptor in South Africans of Indian origin. J. Lipid Res. 33:1992;1647-1655.
12. Peeters A.V., Kotze M.J. Improved heteroduplex detection of single base substitutions in PCR-amplified DNA. PCR Methods Appl. 4:1994;188-190.
13. Illingworth D.R., Pappu A.S., Gregg R.E. Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. Atherosclerosis. 76:1989;21-27.
14. Friedewald W.T., Levy R.I., Frederickson D.S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin. Chem. 18:1972;499-502.
15. Bullen W.W., Miller R.A., Hayes R.N. Development and validation of a high-performance liquid chromatography tandem mass spectrometry assay for atorvastatin, ortho-hydroxy atorvastatin and para-hydroxy atorvastatin in human, dog, and rat plasma. J. Am. Soc. Mass Spectrom. 10:1999;55-66.
16. Kotze M.J., Langenhoven E., Warnich L., Du Plessis L., Retief A.E. The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners. Ann. Hum. Genet. 55:1991;115-121.
17. Leitersdorf E., van der Westhuyzen D.R., Coetzee G.A., Hobbs H.H. Two common low-density lipoprotein gene mutations cause familial hypercholesterolaemia in Afrikaners. J. Clin. Invest. 84:1989;954-961.
18. Graadt van Roggen J.F., van der Westhuyzen D.R., Coetzee G.A., Marais A.D., Steyn K., Langenhoven E., Kotze M.J. FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolaemia. Arterioscler. Thromb. Vasc. Biol. 15:1995;765-772.
19. Fourie A.M., Coetzee G.A., Gevers W., van der Westhuyzen D.R. Two mutant low-density lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity. Biochem. J. 255:1988;411-415.
20. Brown M.S., Goldstein J.L. A receptor mediated pathway for cholesterol homeostasis. Science. 232:1986;34-47.
21. Pappu A.S., Illingworth D.R., Bacon S. Reduction in plasma low-density lipoprotein cholesterol and urinary mevalonic acid by lovastatin in patients with heterozygous familial hypercholesterolaemia. Metabolism. 38:1989;542-549.
22. Brown M.S., Goldstein J.L. Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth. J. Lipid Res. 21:1980;505-517.
23. Schwarz K.B., Witztum J., Schonfeld G., Grundy S.M., Conner W.E. Elevated cholesterol and bile acid synthesis in a young patient with homozygous familial hypercholesterolaemia. J. Clin. Invest. 64:1979;756-760.
24. Thompson G.R., Naoumova R.P., Watts G.F. Role of cholesterol in regulating apolipoprotein B secretion by the liver. J. Lipid Res. 37:1996;439-447.
25. Watts G.F., Naoumova R., Cummings M.H., Umpleby A.M., Slavin B.M., Sönksen P.H., Thompson G.R. Direct correlation between cholesterol synthesis and hepatic secretion of apolipoprotein B-100 in normolipidaemic subjects. Metabolism. 44:1995;1052-1057.
26. Bilheimer D.W., Stone N.J., Grundy S.M. Metabolic studies in familial hypercholesterolaemia. J. Clin. Invest. 64:1979;524-533.
27. Illingworth D.R., Bacon S., Pappu A.S., Sexton G.J. Comparative hypolipidemic effects of lovastatin and simvastatin in patients with heterozygous familial hypercholesterolaemia. Atherosclerosis. 96:1992;53-64.
28. Naoumova R.P., Marais A.D., Mountney J., Firth J.C., Rendell N.B., Taylor G.W., Thompson G.R. Plasma mevalonic acid, an index of cholesterol synthesis in vivo, and responsiveness to HMG-CoA reductase inhibitors in familial hypercholesterolaemia. Atherosclerosis. 119:1996;203-213.
29. Hagemenas F.C., Pappu A.S., Illingworth D.R. The effects of simvastatin on plasma lipoproteins and cholesterol homeostasis in patients with heterozygous familial hypercholesterolaemia. Eur. J. Clin. Invest. 20:1990;150-157.
30. Wetterau J.R., Gregg R.E., Harrity T.W., Arbeeny C., Cap M., Connolly F. An MTP inhibitor that normalizes atherogenic lipoprotein levels in WHHL rabbits. Science. 282:1998;751-754.
31. Nicolosi R.J., Wilson T.A., Krause B.R. The ACAT inhibitor, CI-1011 is effective in the prevention and regression of aortic fatty streak area in hamsters. Atherosclerosis. 137:1998;77-85.
32. Randomized trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S). Lancet. 344:1994;1383-1389.
33. Shepherd J., Cobbe S.M., Ford I., Isles C.G., Lorimer A.R., MacFarlane P.W., McKillip J.H., Packard C.J. Prevention of coronary heart disease with pravastatin in men with hypercholesterolaemia. N. Engl. J. Med. 333:1995;1301-1307.