Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

Atherosclerosis

Volumn 216, Issue 2, 2011, Pages 409-413

  Noto, Davide ^a   Cefalù, Angelo B ^a   Barraco, Giacoma ^a   Fayer, Francesca ^a   Minà, Mariangela ^a   Yue, Pin ^c   Tarugi, Patrizia ^b   Schonfeld, Gustav ^c   Averna, Maurizio R ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Familial hypobetalipoproteinemia; Genetics; Non cholesterol sterols

Indexed keywords

7 DEHYDROCHOLESTEROL; APOLIPOPROTEIN B; CAMPESTEROL; LATHOSTEROL; NON CHOLESTEROL STEROL; STEROL; UNCLASSIFIED DRUG;

ABSORPTION; ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; CORRELATION ANALYSIS; FAMILIAL HYPOBETALIPOPROTEINEMIA; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ABSORPTION; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHOLESTEROL; FAMILY HEALTH; HUMANS; HYPOBETALIPOPROTEINEMIAS; INTESTINES; MIDDLE AGED; MODELS, GENETIC; MUTATION; PHENOTYPE; PHYTOSTEROLS; STEROLS;

EID: 79958014222     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2010.10.050     Document Type: Article

References (22)

1. Whitfield A.J., Barrett P.H., van Bockxmeer F.M., Burnett J.R. Lipid disorders and mutations in the APOB gene. Clin Chem 2004, 50(10):1725-1732.
2. Schonfeld G., Lin X., Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci 2005, 62(12):1372-1378.
3. Wetterau J.R., Aggerbeck L.P., Bouma M.E., et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992, 258(5084):999-1001.
4. Jones B., Jones E.L., Bonney S.A., et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 2003, 34(1):29-31.
5. Leiper J.M., Bayliss J.D., Pease R.J., Brett D.J., Scott J., Shoulders C.C. Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. J Biol Chem 1994, 269(35):21951-21954.
6. Fasano T., Cefalù A.B., Di Leo E., et al. A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol. Arterioscler Thromb Vasc Biol 2007, 27(3):677-681.
7. Yuan B., Neuman R., Duan S.H., et al. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am J Hum Genet 2000, 66(5):1699-1704.
8. Sherva R., Yue P., Schonfeld G., Neuman R.J. Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families. J Lipid Res 2007, 48(12):2632-2639.
9. Knoblauch H., Müller-Myhsok B., Busjahn A., et al. A cholesterol-lowering gene maps to chromosome 13q. Am J Hum Genet 2000, 66(1):157-166.
10. Tarugi P., Averna M., Di Leo E., et al. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis 2007, 195:e19-27.
11. Altmann S.W., Davis H.R., Zhu L.J., et al. Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science 2004, 303(5661):1201-1204.
12. Morikawa K., Kondo I., Kanamaru Y., Nagaoka S. A novel regulatory pathway for cholesterol degradation via lactostatin. Biochem Biophys Res Commun 2007, 352(3):697-702.
13. Vrins C., Vink E., Vandenberghe K.E., Frijters R., Seppen J., Groen A.K. The sterol transporting heterodimer ABCG5/ABCG8 requires bile salts to mediate cholesterol efflux. FEBS Lett 2007, 581(24):4616-4620.
14. Miettinen T.A., Tilvis R.S., Kesäniemi Y.A. Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population. Am J Epidemiol 1990, 131:20-23.
15. Noto D., Cefalù A.B., Cannizzaro A., et al. Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. Atherosclerosis 2009, 206(1):193-198.
16. Noto D., Cefalù A.B., Barraco G., et al. Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia. Pediatr Res 2010, 67(2):200-204.
17. Welty F.K., Lahoz C., Tucker K.L., Ordovas J.M., Wilson P.W., Schaefer E.J. Frequency of ApoB and ApoE gene mutations as causes of hypobetalipoproteinemia in the Framingham offspring population. Arterioscler Thromb Vasc Biol 1998, 18(11):1745-1751.
18. Miettinen statin 3.
19. Averna M., Seip R.L., Mankowitz K., Schonfeld G. Postprandial lipemia in subjects with hypobetalipoproteinemia and a single intestinal allele for apoB-48. J Lipid Res 1993, 34(11):1957-1967.
20. Hooper A.J., Robertson K., Barrett P.H., Parhofer K.G., van Bockxmeer F.M., Burnett J.R. Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia. J Clin Endocrinol Metab 2007, 92(4):1474-1478.
21. Lin X., Chen Z., Yue P., et al. A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation. Am J Physiol Gastrointest Liver Physiol 2006, 290(6):G1170-G1176.
22. Matthan N.R., Pencina M., Larocque J.M., et al. Alterations in cholesterol absorption and synthesis characterize Framingham offspring study participants with coronary heart disease. J Lipid Res 2009, 50(9):1927-1935.