MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis

Gastroenterology
O RosmorducR Poupon

Abstract

Many studies indicate that gallstone susceptibility has genetic components. MDR3 is the phosphatidylcholine translocator across the hepatocyte canalicular membrane. Because phospholipids are a carrier and a solvent of cholesterol in hepatic bile, we hypothesized that a defect in the MDR3 gene could be the genetic basis for peculiar forms of cholesterol gallstone disease, in particular those associated with symptoms and cholestasis without evident common bile duct stone. We studied 6 adult patients with a peculiar form of cholelithiasis. MDR3 gene sequence was determined by reverse-transcription polymerase chain reaction amplification of mononuclear cell RNAs followed by direct sequencing. Hepatic bile was analyzed in 2 patients. All patients shared the following features: at least 1 episode of biliary colic, pancreatitis, or cholangitis; biochemical evidence of chronic cholestasis; recurrence of symptoms after cholecystectomy; presence of echogenic material in the intrahepatic bile ducts; and prevention of recurrence by ursodeoxycholic acid therapy. Hepatic bile composition showed a high cholesterol/phospholipid ratio and cholesterol crystals. In all patients, we found MDR3 gene mutations involving a conserved amino acid region...Continue Reading

References

Jun 1, 1992·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·J PalmaA M Danitz
Feb 27, 1992·The New England Journal of Medicine·S P LeeH Z Park
Mar 1, 1986·Gastroenterology·S P Lee, J F Nicholls
Sep 23, 1982·The New England Journal of Medicine·W A Gracie, D F Ransohoff
Apr 1, 1995·Pharmacology & Therapeutics·R Poupon, R E Poupon
Aug 15, 1995·Proceedings of the National Academy of Sciences of the United States of America·B KhanujaB Paigen
Jan 1, 1994·Gastroenterology·M SackmannG Paumgartner
Apr 1, 1993·American Journal of Surgery·G D Friedman
Apr 1, 1996·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·J F DeleuzeM Hadchouel
Mar 1, 1997·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·D JüngstE Frimberger
Mar 1, 1997·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·E JacqueminO Bernard
Feb 21, 1998·Proceedings of the National Academy of Sciences of the United States of America·J M de VreeM Hadchouel
Nov 26, 1998·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·U BeuersG Paumgartner
Jul 1, 1999·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·S TomidaT Osuga
Aug 24, 1999·Journal of Hepatology·E Jacquemin, M Hadchouel
Nov 11, 1999·Mammalian Genome : Official Journal of the International Mammalian Genome Society·G BouchardB Paigen
Oct 7, 2000·Gastroenterology·A B LowenfelsP Maisonneuve

❮ Previous
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Citations

Jun 5, 2002·Annual Review of Biochemistry·P Borst, R Oude Elferink
Jan 31, 2004·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Frank LammertMartin C Carey
Sep 24, 2004·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·A S Knisely
Mar 3, 2005·Journal of Lipid Research·Daphne WeihsFred M Konikoff
Mar 11, 2005·Journal of Clinical Gastroenterology·Christiane Pauli-Magnus, Peter J Meier
Oct 13, 2006·Current Opinion in Gastroenterology·Michael Trauner, James L Boyer
Jun 6, 2007·Journal of Internal Medicine·H-U Marschall, C Einarsson
Apr 3, 2008·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Keli Hansen, Simon Horslen
Apr 25, 2008·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Keli Hansen, Simon Horslen
Oct 11, 2011·The Journal of Pathology·Michael NicolaouKenneth J Linton
Mar 2, 2013·Current Opinion in Gastroenterology·Marcin KrawczykFrank Lammert
Aug 12, 2015·Der Chirurg; Zeitschrift für alle Gebiete der operativen Medizen·A KrohM Binnebösel
Sep 30, 2015·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Mei ZhouLei Ling
Jul 12, 2020·Scandinavian Journal of Gastroenterology·Catarina GouveiaJoana Nunes
Oct 1, 2020·Scientific Reports·Anca D PetrescuSharon DeMorrow
Apr 2, 2003·Pharmacogenetics·Christiane Pauli-Magnus, Peter J Meier
Oct 1, 2003·Pathology International·Tadashi TeradaIsao Osada
Dec 26, 2006·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Gudrun SchneiderChristoph Reichel
Jun 15, 2007·Orphanet Journal of Rare Diseases·Olivier Rosmorduc, Raoul Poupon
Jun 2, 2007·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Junichi ShodaHiroshi Suzuki
Jan 29, 2008·Current Treatment Options in Gastroenterology·Shikha S Sundaram, Ronald J Sokol
Sep 18, 2007·Journal of Gastroenterology and Hepatology·Elizabeth J DialLenard M Lichtenberger
May 16, 2006·Alimentary Pharmacology & Therapeutics·A FloreaniG Mazzella
May 7, 2009·World Journal of Gastroenterology : WJG·Victoria Geenes, Catherine Williamson
Oct 5, 2010·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Gerald U DenkThomas Pusl
Apr 1, 2008·Journal of Pediatric Gastroenterology and Nutrition·Feras T AlissaBenjamin L Shneider
May 19, 2006·Expert Opinion on Therapeutic Targets·Shi-Ying Cai, James L Boyer
Aug 5, 2010·Journal of Pediatric Gastroenterology and Nutrition·Ursula MatteJorge A Bezerra
Jan 23, 2009·Digestive Diseases and Sciences·Hamed N KhanTom Bates
Dec 3, 2010·World Journal of Surgery·Tomohide HoriShinji Uemoto
Sep 28, 2014·Expert Opinion on Drug Metabolism & Toxicology·Christoph G Dietrich, Andreas Geier
Mar 28, 2013·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Raoul PouponVéronique Barbu
May 9, 2014·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Edward J AndressKenneth J Linton
Dec 17, 2016·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Peter L M JansenJan G Hengstler
Apr 16, 2017·Experimental and Clinical Transplantation : Official Journal of the Middle East Society for Organ Transplantation·Mahir KırnapMehmet Haberal
Dec 13, 2016·Journal of Gastroenterology·Susumu TazumaTooru Shimosegawa
Nov 11, 2017·International Journal of Molecular Sciences·Anca D PetrescuSharon DeMorrow
Apr 11, 2020·The Journal of Biological Chemistry·Xiaoyun FengH Henry Dong
Jan 8, 2004·Liver International : Official Journal of the International Association for the Study of the Liver·Peter L M Jansen, Ekkehard Sturm
Jun 12, 2004·Current Gastroenterology Reports·David Q-H Wang, Nezam H Afdhal
May 25, 2005·Liver International : Official Journal of the International Association for the Study of the Liver·Raoul Poupon
Jun 10, 2006·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Thomas LangReinhold Kerb
May 30, 2003·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Bertrand CondatDominique Valla
Mar 29, 2005·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Niels G VennemanKarel J van Erpecum
Feb 3, 2009·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Jean-Louis DelaunayMichèle Maurice

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