Progressive Familial Intrahepatic Cholestasis, Type 1, Is Associated with Decreased Farnesoid X Receptor Activity

Gastroenterology

Volumn 126, Issue 3, 2004, Pages 756-764

  Chen, Frank ^a   Ananthanarayanan, M ^a   Emre, Sukru ^a   Neimark, Ezequiel ^a   Bull, Laura N ^b   Knisely, A S ^c   Strautnieks, Sandra S ^c   Thompson, Richard J ^c   Magid, Margret S ^a   Gordon, Ronald ^a   Balasubramanian, N ^a   Suchy, Frederick J ^a   Shneider, Benjamin L ^a,d  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

^d MOUNT SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ANTISENSE OLIGONUCLEOTIDE; BILE ACID; BILE ACID TRANSPORTER; BILE SALT; CARRIER PROTEIN; FARNESOID X RECEPTOR; LIPID BINDING PROTEIN; MESSENGER RNA; PROTEIN FIC1; RNA 28S; SODIUM; UNCLASSIFIED DRUG;

APICAL MEMBRANE; ARTICLE; ATP8B1 GENE; BILE FLOW; BILE SECRETION; BYLER DISEASE; CELL NUCLEUS; CELL STRAIN CACO 2; CHOLESTASIS; CONTROLLED STUDY; CYTOPLASM; GENE; GENE MUTATION; HUMAN; HUMAN CELL; ILEUM; INTRACELLULAR TRANSPORT; INTRAHEPATIC CHOLESTASIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1; PROMOTER REGION;

EID: 10744227867     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2003.12.013     Document Type: Article

References (33)

1. Clayton RJ, Iber FL, Ruebner BH, McKusick VA. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. J Pediatr 1965;67:1025-1028.
2. Bull LN, Varlton VEH, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzelben CL, O'Connell NC, Setchell KDR, Agostini RM, Kocoshis SA, Reyes J, Knisely AS. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997;26:155-164.
3. Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juiun J, Liao M, Klomp LWJ, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RHJ, Freimer NB. Identification of a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-224.
4. Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, Arias I. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology 2001;34:768-775.
5. Harris M, Kagawa R, Dawson P, Arias I. The effect of FIC1 expression on taurocholate transport by BSEP and IBAT in transfected MDCKII cells (abstr). Hepatology 2002;36:309A.
6. Pawlikowska L, Ottenhoff R, Looije N, Eppens E, Knisely A, Bull L, Killen N, Oude Elferink R, Freimer N. FIC1 mutant mice have a defect in the regulation of intestinal bile salt absorption (abstr). Hepatology 2001;34:240A.
7. Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988;95:130-136.
8. Hollands CM, Rivera-Pedrogo J, Gonzalez-Vallina R, Loret-de-Mola O, Nahmad M, Burnweit CA. Ileal exclusion for Byler's disease: an alternative surgical approach with promising early results for pruritus. J Pediatr Surg 1998;33:220-224.
9. Oelkers P, Kirby LC, Heubi JE, Dawson PA. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). J Clin Invest 1997;99:1880-1887.
10. Wong MH, Oelkers P, Dawson PA. Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity. J Biol Chem 1995;270:27228-27234.
11. Crossman MW, Hauft SH, Gordon JI. The mouse ileal lipid-binding protein gene: a model for studying axial patterning during gut morphogenesis. J Cell Biol 1994;126:1547-1564.
12. Seol W, Choi H, Moore D. An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors. Science 1996;272:1336-1339.
13. Forman B, Goode E, Chen J, Oro A, Bradley D, Perimann T, Noonan D, Burka L, McMorris T, Lamph W, Evans R, Weinberger C. Identification of a nuclear receptor that is activated by farnesol metabolites. Cell 1995;81:687-693.
14. Harris MJ, Arias IM. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Biochim Biophys Acta 2003;1633:127-131.
15. Barbu V, Dautry F. Northern blot normalization with a 28S rRNA oligonucleotide probe. Nucleic Acids Res 1989;17:7115.
16. Jung D, Fried M, Kullak-Ublick G. Human apical sodium-dependent bile salt transporter gene (SLC10A2) is regulated by the peroxisome proliferator-activated receptor alpha. J Biol Chem 2002;277:30559-30566.
17. Chen F, Ma L, Dawson P, Sinal C, Sehayek E, Gonzalez F, Breslow J, Ananthanarayanan M, Shneider B. Liver receptor homologue-1 mediated species- and cell line-specific bile acid dependent negative feedback regulation of the apical sodium-dependent bile acid transporter. J Biol Chem 2003;278:19909-19916.
18. Neimark E, Chen F, Shneider B. Bile acid induced negative feedback regulation of the human ileal bile acid transporter is mediated by the farnesoid X-receptor (FXR), the short heterodimer partner (SHP), and the retinoid X receptor (RAR/RXR) (abstr). Gastroenterology 2003;124:A689.
19. Ananthanarayanan M, Balasubramanian N, Makishima M, Mangelsdorf D, Suchy F. Human bile salt export pump promoter is transactivated by farnesoid X receptor/bile acid receptor. J Biol Chem 2001;276:28857-28865.
20. Chen F, Ma L, Al-Ansari N, Shneider B. The role of AP-1 in the transcriptional regulation of the rat apical sodium-dependent bile acid transporter. J Biol Chem 2001;276:38703-38714.
21. Parks D, Blanchard S, Bledsoe R, Chandra G, Consler T, Kliewer S, Stimmel J, Wilson T, Zavacki A, Moore D, Lehmann J. Bile acids: natural ligands for an orphan nuclear receptor. Science 1999;284:1365-1368.
22. Makishima M, Okamoto A, Repa J, Tu H, Learned R, Luk A, Hull M, Lustig K, Mangelsdorf D, Shan B. Identification of a nuclear receptor for bile acids. Science 1999;284:1362-1365.
23. Goodwin B, Jones S, Price R, Watson M, McKee D, Moore L, Galardi C, Wilson J, Lewis M, Roth M, Maloney P, Willson T, Kliewer S. A regulatory cascade of the nuclear receptors FXR, SHP-1, and LRH-1 represses bile acid biosynthesis. Mol Cell 2000;6:517-526.
24. Lu T, Makishima M, Repa J, Schoonjans K, Kerr T, Auwerx J, Mangelsdorf D. Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors. Mol Cell 2000;6:507-515.
25. Daleke D, Lyles J. Identification and purification of aminophospholipid flippases. Biochim Biophys Acta 2000;1486:108-127.
26. Knisely A, Meier Y, Stieger B, Portmann B, Rayner A, Strautnieks S, Thompson R, Houwen R, Klomp L, Bull L. Immunohistochemically recognized bile salt export protein is unremarkably expressed at the canaliculus in persons with ATP8B1 disease (abstr). Hepatology 2003;38:390A.
27. Linarelli LG, Williams CN, Phillips MJ. Byler's disease: fatal intrahepatic cholestasis. J Pediatr 1972;81:484-492.
28. Jacquemin E, Dumont M, Bernard O, Erlinger S, Hadchouel M. Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease). Eur J Pediatr 1994;153:424-428.
29. Shneider BL, Fox VL, Schwarz KB, Watson CL, Ananthanarayanan M, Thevananther S, Christie DM, Hardikar W, Setchell KDR, Mieli-Vergani G, Suchy FJ, Mowat AP. Hepatic basolateral sodium-dependent bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia. Hepatology 1997;25:1176-1183.
30. Bertolotti M, Carulli L, Concari M, Martella P, Loria P, Tagliafico E, Ferrari S, Del Puppo M, Amati B, De Fabiani E, Crestani M, Amorotti C, Manenti A, Carubbi F, Pinetti A, Carulli N. Suppression of bile acid synthesis, but not of hepatic cholesterol 7alpha-hydroxylase expression, by obstructive cholestasis in humans. Hepatology 2001;34:234-242.
31. Denson L, Sturm E, Echevarria W, Zimmerman T, Makishima M, Mangelsdorf D, Karpen S. The orphan nuclear receptor, shp, mediates bile acid-induced inhibition of the rat bile acid transporter, ntcp. Gastroenterology 2001;121:140-147.
32. Sinal C, Tohkin M, Miyata M, Ward J, Lambert G, Gonzalez F. Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. Cell 2000;102:731-744.
33. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233-238.