Low phospholipid associated cholelithiasis: Association with mutation in the MDR3/ABCB4 gene

Orphanet Journal of Rare Diseases

Volumn 2, Issue 1, 2007, Pages

  Rosmorduc, Olivier ^a   Poupon, Raoul ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; GLYCOPROTEIN P; MULTIDRUG RESISTANCE PROTEIN 3; PHOSPHOLIPID;

ADULT; ANIMAL; CHOLELITHIASIS; DISEASE MODEL; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; MALE; METABOLISM; METHODOLOGY; MOUSE; MUTATION; PHENOTYPE; REVIEW; SYNDROME;

ADULT; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; CHOLELITHIASIS; DISEASE MODELS, ANIMAL; FEMALE; GENETIC SCREENING; HUMANS; MALE; MICE; MUTATION; P-GLYCOPROTEINS; PHENOTYPE; PHOSPHOLIPIDS; SYNDROME;

EID: 34547382615     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-2-29     Document Type: Review

References (31)

1. Diehl AK: Symptoms of gallstone disease. Baillieres Clin Gastroenterol 1992, 6:635-657.
2. Diehl AK, Schwesinger W, Holleman DJ, Chapman J, Kurtin W: Clinical correlates of gallstone composition : distinguishing pigment from cholesterol stones. Am J Gastroenterol 1995, 90(6):967-972.
3. Fracchia M, Pellegrino S, Secreto P, Gallo L, Masoero G, Pera A, Galatola G: Biliary lipid composition in cholesterol microlithiasis. Gut 2001, 48:702-706.
4. Shoda J, Oda K, Suzuki H, Sugiyama Y, Ito K, Cohen D, Feng L, Kamiya J, Nimura Y, Kano M, Matsuzaki Y, Tanaka N: Etiologic significance of defects in cholesterol, phospholipid, and bile acid metabolism in the liver of patients with intrahepatic calculi. Hepatology 2001, 33:1194-1205.
5. Rosmorduc O, Hermelin B, Poupon R: MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001, 120:1449-1467.
6. Rosmorduc O, Kedzia C, Boelle PY, Chazouillères O, Hermelin B, Poupon R: Intrahepatic cholesterol cholelithiasis associated with ABCB4 gene mutations: phenotype-genotype relationship [abstract]. Hepatology 2005, 42:368A.
7. Jacquemin E, De Vree M, Cresteil D, Sokal E, Sturm E, Dumont M, Scheffer G, Paul M, Burdelski M, Bosma P, Bernard O, Hadchouel M, Oude Elferink R: The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulhood. Gastroenterology 2001, 120:1448- 1458.
8. Dixon P, Weerasekera N, Linton K, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, Swiet M, Warnes G, Elias E, Higgins C, Johnston D, McCarthy M, Williamson C: Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 2000, 9:1209-1217.
9. Gendrot C, Bacq Y, Brechot M-C, Lansac J, Andres C: A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet 2003, 40:e32.
10. Jacquemin E, Cresteil D, Manouvrier S, Boute O, Hadchouel M: Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy [letter]. Lancet 1999, 353:210-211.
11. Strautnieks S, Lopes A, Underhill J, Gerred S, Nibbering K, Knisely A, Portman B, Bomford A, Heaton N, Mieli-Vergani G, Oude Elferink R, O'Grady J, Wali S, Thompson R: Critical residues in the multidrug resistance 3 protein gene associated with adult onset of cholangiopathy and intrahepatic cholestasis of pregnancy. Hepatology 2002, 36:415A.
12. Rosmorduc O, Hermelin B, Boelle P, Parc R, Taboury J, Poupon R: ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterologx 2003, 125:452-459.
13. Hanna M, Brault M, Kwan T, Kast C, Gros P: Mutagenesis of transmembrane domain 11 of P-glycoprotein by alanine scanning. Biochemistry 1996, 35:3625-3635.
14. Kwan T, Gros P: Mutational analysis of the P-glycoprotein first intracellular loop and flanking transmembrane domains, Biochemistry 1998, 37:3337-3350.
15. Bouchard G, Nelson HM, Lammert F, Rowe LB, Carey MC, Paigen B: High-resolution maps of the murine Chromosome 2 region containing the cholesterol gallstone locus, Lith1. Mamm Genome 1999, 10:1070-1074.
16. Bouchard G, Carey M, Paigen B: In the genetic locus containing the second cholesterol gallstone gene Lith2, an Mrp2 polymorphism is linked to heightened secretion of organic anions [abstract]. Gastroenterology 2000, 118:A1017.
17. Khanuja B, Cheah YC, Hunt M, Nishina PM, Wang DQ, Chen HW, Billheimer JT, Carey MC, Paigen B: Lith1, a major gene affecting cholesterol gallstone formation among inbred strains of mice. Proc Natl Acad Sci USA 1995, 92:7729-7733.
18. Lammert F, Carey M, Paigen B: Chromosomal organisation of candidate genes involved in cholesterol gallstone formation: a murine gallstone map. Gastroenterology 2001, 120:221-238.
19. Wittenburg H, Lyons M, Renhua L, Churchill G, Carey M, Paigen B: FXR and ABCG5/ABCG8 as determinants of cholesterol gallstone formation from quantitative trait locus mapping in mice. Gastroenterologx 2003, 125:868-881.
20. Fouassier L, Kinnman N, Lefèvre G, Lasnier E, Rey C, Poupon R, Oude Elferink R, Housset C: Contribution of mrp2 in alteration of canalicular bile formation by the endothelin antagonist bosentan. J Hepatol 2002, 37:184-191.
21. Lammert F, Wang DQ, Hillebrandt S, Geier A, Fickert P, Trauner M, Matern S, Paigen B, Carey MC: Spontaneous cholecysto- and hepatolithiasis in Mdr2 -/- mice: a model for low phospholipid-associated cholelithiasis. Hepatology 2004, 39:117-128.
22. Oude Elferink R, Ottenhof R, van Wiijland M, Frijters C, van Nieuwkerk C, Groen A: Uncoupling of biliary phospholipid and cholesterol secretion in mice with reduced expression of mdr2 P-glycoprotein. J Lipid Res 1996, 37:1065-1075.
23. Fickert P, Zollner G, Fuchsbichler A, Stumptner C, Weiglein A, Lammert F, Marschall H-U, Tsybrovsky O, Zatloukal K, Denk H, Trauner M: Ursodeoxycholic acid aggravates bile infarcts in bile ductligated and Mdr2 knockout mice via disruption of cholangioles. Gactroenterology 2002, 123(4):1238-1251.
24. Rosmorduc O, Hermelin B, Boelle P, Poupon R, Poupon R, Chazouillères O: ABCB4 gene mutations and primary sclerosing cholangitis. Gostraenterologx 2004, 126:1220-1222.
25. Pauli-Magnus C, Kerb R, Fattinger K, Lang T, Anwald B, Kullak-Ublick G, Beuers U, Meier P: Bsep and MDR3 haplotype structure in healthy caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. Hepatology 2004, 39:779-791.
26. Jacquemin E: Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Seminars Liver Dis 2001, 21(4):551-562.
27. Simon E, Marschall H-U, Glantz A, Rath W, Matern S, Lammert F: Mutations of hepatocanalicular ABC transporters in intrahepatic cholestasis of pregnancy. Hepatology 2002, 36:335A.
28. Lammert F, Marschall H-U, Glantz A, Matern S: Intrahepatic cholestasis of pregnancy: molecular pathogenesis, diagnosis and management. J Hepatol 2000, 33:1012-1021.
29. Van Dyke R: The liver in pregnancy. In Hepatology: A Textbook of Liver Disease. 2 Edited by: Zakim M, Boyer T. Philadelphia: W.B. Saunders Company; 1996:1734-1759.
30. Wasmuth HE, Glantz A, Keppeler H, Simon E, Bartz C, Rath W, Mattsson LA, Marschall HU, Lammert F: Intrahepatic cholestasis associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene. Gut 2006, 56:265-270.
31. Lucena J-F, Herrero J, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, Sola J, Herraiz M, Medina J, Prieto J: A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003, 124:1037-1042.