In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers

Pharmacogenetics and Genomics

Volumn 19, Issue 11, 2009, Pages 884-892

  Yamanashi, Yoshihide ^a   Takada, Tappei ^a   Suzuki, Hiroshi ^a  

^a UNIVERSITY OF TOKYO HOSPITAL   (Japan)

Author keywords

tocopherol; Cholesterol; Ezetimibe; Intestinal absorption

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN; CHOLESTEROL; EZETIMIBE; PROTEIN NPCIL1; UNCLASSIFIED DRUG;

APICAL MEMBRANE; ARTICLE; CELL STRAIN CACO 2; CELLULAR DISTRIBUTION; CHOLESTEROL TRANSPORT; CONTROLLED STUDY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

ALPHA-TOCOPHEROL; BLOTTING, WESTERN; CACO-2 CELLS; CELL MEMBRANE; CHOLESTEROL; CLUSTER ANALYSIS; GENE EXPRESSION REGULATION; HUMANS; INTESTINAL ABSORPTION; MEMBRANE PROTEINS; MUTANT PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; RNA, MESSENGER; SUBCELLULAR FRACTIONS;

EID: 74049133921     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e3283327925     Document Type: Article

References (24)

1. Bosner MS, Lange LG, Stenson WF, Ostlund RE Jr. Percent cholesterol absorption in normal women and men quantified with dual stable isotopic tracers and negative ion mass spectrometry. J Lipid Res 1999; 40:302-308.
2. Gylling H, Miettinen TA. Inheritance of cholesterol metabolism of probands with high or low cholesterol absorption. J Lipid Res 2002; 43:1472-1476.
3. Cohen JC, Pertsemlidis A, Fahmi S, Esmail S, Vega GL, Grundy SM, Hobbs HH. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci USA 2006; 103:1810-1815. (Pubitemid 43228775)
4. Altmann SW, Davis HR Jr, Zhu LJ, Yao X, Hoos LM, Tetzloff G, et al. Niemann-Pick C1 like 1 protein is critical for intestinal cholesterol absorption. Science 2004; 303:1201-1204. (Pubitemid 38233587)
5. Davis HR Jr, Zhu LJ, Hoos LM, Tetzloff G, Maguire M, Liu J, et al. Niemann-Pick C1 like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis. J Biol Chem 2004; 279:33586-33592. (Pubitemid 39063007)
6. Yamanashi Y, Takada T, Suzuki H. Niemann-Pick C1 -like 1 overexpression facilitates ezetimibe-sensitive cholesterol and beta-sitosterol uptake in CaCo-2 cells. J Pharmacol Exp Ther 2007; 320:559-564. (Pubitemid 46147934)
7. Garcia-Calvo M, Lisnock J, Bull HG, Hawes BE, Burnett DA, Braun MP, et al. The target of ezetimlbe is Niemann-Pick C1-like 1 (NPC1L1). Proc Natl Acad Sci USA 2005; 102:8132-8137. (Pubitemid 40800055)
8. Kramer W, Girbig F, Corsiero D, Pfenninger A, Frlck W, Jahne G, et al. Aminopeptidase N (CD13) is a molecular target of the cholesterol absorption inhibitor ezetimibe in the enterocyte brush border membrane. J Biol Chem 2005; 280:1306-1320.
9. Narushima K, Takada T, Yamanashi Y, Suzuki H. Niemann-Pick C1 -like 1 mediates alpha-tocopherol transport. Mol Pharmacol 2008; 74:42-49. (Pubitemid 351872157)
10. Kelly FJ, Lee R, Mudway IS. Inter- and intra-individual vitamin E uptake in healthy subjects is highly repeatable across a wide supplementation dose range. Ann N Y Acad Sci 2004; 1031:22-39. (Pubitemid 40361740)
11. Iwayanagl Y, Takada T, Suzuki H. HNF4alpha is a crucial modulator of the cholesterol-dependent regulation of NPC1L1. Pharm Res 2008; 25:1134-1141.
12. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193:265-275.
13. Sane AT, Sinnett D, Delvin E, Bendayan M, Marcil V, Menard D, et al. Localization and role of NPC1L1 in cholesterol absorption in human intestine. J Lipid Res 2006; 47:2112-2120. (Pubitemid 44936122)
14. Knopfel M, Davies JP, Duong PT, Kvaerno L, Carreira EM, Phillips MC, et al. Multiple plasma membrane receptors but not NPC1L1 mediate high-affinity, ezetimibe-sensitive cholesterol uptake into the intestinal brush border membrane. Biochim Biophys Acta 2007; 1771:1140-1147. (Pubitemid 47404961)
15. Fahmi S, Yang C, Esmail S, Hobbs HH, Cohen JC. Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes. Hum Mol Genet 2008; 17:2101-2107. (Pubitemid 351911979)
16. Kobayashi K, Ito K, Takada T, Sugiyama Y, Suzuki H. Functional analysis of nonsynonymous single nucleotide polymorphism type ATP-bindlng cassette transmembrane transporter subfamily C member 3. Pharmacogenet Genomics 2008; 18:823-833.
17. Gelman MS, Kannegaard ES, Kopito RR. A principal role for the proteasome in endoplasmic reticulum-associated degradation of misfolded intracellular cystic fibrosis transmembrane conductance regulator. J Biol Chem 2002; 277:11709-11714.
18. Hayashi H, Takada T, Suzuki H, Akita H, Sugiyama Y. Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. Hepatology 2005; 41:916-924. (Pubitemid 40462954)
19. Jeon H, Blacklow SC. Structure and physiologic function of the low-density lipoprotein receptor. Annu Rev Biochem 2005; 74:535-562. (Pubitemid 40995517)
20. Wang J, Williams CM, Hegele RA. Compound heterozygosity for two non-synonymous polymorphisms in NPC1 L1 in a non-responder to ezetimibe. Clin Genet 2005; 67:175-177. (Pubitemid 40287525)
21. Simon JS, Karnoub MC, Devlin DJ, Arreaza MG, Qiu P, Monks SA, et al. Sequence variation In NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment. Genomics 2005; 86:648-656. (Pubitemid 41752945)
22. Hawes BE, O'Neill KA, Yao X, Crona JH, Davis HR Jr, Graziano MP, Altmann SW. In vivo responsiveness to ezetimibe correlates with Niemann-Pick C1 like-1 (NPC1L1) binding affinity: comparison of multiple species NPC1L1 orthologs. Mol Pharmacol 2007; 71:19-29. (Pubitemid 46020974)
23. Weinglass AB, Kohler M, Schulte U, Liu J, Nketiah EO, Thomas A, et al. Extracellular loop C of NPC1L1 is important for binding to ezetimibe. Proc Natl Acad Sci USA 2008; 105:11140-11145.
24. Davies JP, Scott C, Oishi K, Llapis A, loannou YA. Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia. J Biol Chem 2005; 280:12710-12720. (Pubitemid 40491091)