MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease

Hepatology

Volumn 60, Issue 1, 2014, Pages 301-310

  Girard, Muriel ^a,b   Lacaille, Florence ^a   Verkarre, Virginie ^a   Mategot, Raphael ^b   Feldmann, Gerard ^c   Grodet, Alain ^c   Sauvat, Frédérique ^a   Irtan, Sabine ^a   Davit Spraul, Anne ^d   Jacquemin, Emmanuel ^d   Ruemmele, Frank ^a   Rainteau, Dominique ^e   Goulet, Olivier ^a   Colomb, Virginie ^a   Chardot, Christophe ^a   Henrion Caude, Alexandra ^b   Debray, Dominique ^a,e  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b IMAGINE INSTITUTE   (France)

^c CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^d BICÊTRE HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; BILE SALT EXPORT PUMP; GAMMA GLUTAMYLTRANSFERASE; MULTIDRUG RESISTANCE ASSOCIATED PROTEIN 2; MYOSIN V; MYOSIN VB; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BILE ACID BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; INTRAHEPATIC BILE DUCT; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER BIOPSY; LIVER CELL; LIVER FIBROSIS; LIVER HISTOLOGY; MALE; MICROVILLOUS INCLUSION DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PRURITUS; SMALL INTESTINE DISEASE;

BILE ACIDS AND SALTS; BIOPSY; CHILD, PRESCHOOL; CHOLESTASIS; DIARRHEA, INFANTILE; ENDOSOMES; ENTEROCYTES; FEMALE; HEPATOCYTES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALABSORPTION SYNDROMES; MALE; MICROVILLI; MUCOLIPIDOSES; MYOSIN HEAVY CHAINS; MYOSIN TYPE V; RAB GTP-BINDING PROTEINS;

EID: 84903174800     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.26974     Document Type: Article

References (33)

1. Ruemmele FM, Schmitz J, Goulet O. Microvillous inclusion disease (microvillous atrophy). Orphanet J Rare Dis 2006;1:22.
2. Phillips A, Fransen J, Hauri HP, Sterchi E. The constitutive exocytotic pathway in microvillous atrophy. J Pediatr Gastroenterol Nutr 1993;17:239-246.
3. Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 2008;40:1163-1165.
4. Ameen NA, Salas PJ. Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium. Traffic Cph Den 2000;1:76-83.
5. Wakabayashi Y, Dutt P, Lippincott-Schwartz J, Arias IM. Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells. Proc Natl Acad Sci U S A 2005;102:15087-15092.
6. Lapierre LA, Goldenring JR. Interactions of myosin vb with rab11 family members and cargoes traversing the plasma membrane recycling system. Methods Enzymol 2005;403:715-723.
7. Wakabayashi Y, Lippincott-Schwartz J, Arias IM. Intracellular trafficking of bile salt export pump (ABCB11) in polarized hepatic cells: constitutive cycling between the canalicular membrane and rab11-positive endosomes. Mol Biol Cell 2004;15:3485-3496.
8. Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, Karrenbeld A, et al. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. J Pediatr Gastroenterol Nutr 2011;52:307-313.
9. Golachowska MR, van Dael CML, Keuning H, Karrenbeld A, Hoekstra D, Gijsbers CFM, et al. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. J Pediatr Gastroenterol Nutr 2012;54:491-498.
10. Halac U, Lacaille F, Joly F, Hugot J-P, Talbotec C, Colomb V, et al. Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder. J Pediatr Gastroenterol Nutr 2011;52:460-465.
11. Humbert L, Maubert MA, Wolf C, Duboc H, Mahé M, Farabos D, et al. Bile acid profiling in human biological samples: comparison of extraction procedures and application to normal and cholestatic patients. J Chromatogr B Analyt Technol Biomed Life Sci 2012;899:135-145.
12. Bedossa P, Poynard T. An algorithm for the grading of activity in chronic hepatitis C. The METAVIR Cooperative Study Group. Hepatology 1996;24:289-293.
13. Mutanen A, Lohi J, Heikkilä P, Koivusalo AI, Rintala RJ, Pakarinen MP. Persistent abnormal liver fibrosis after weaning off parenteral nutrition in pediatric intestinal failure. Hepatology 2013;58:729-738.
14. Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology 2010;51:1645-1655.
15. Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, et al. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Hum Mutat 2010;31:544-551.
16. Kaliciński PJ, Ismail H, Jankowska I, Kamiński A, Pawlowska J, Drewniak T, et al. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg Off J Austrian Assoc Pediatr Surg Al Z Für Kinderchir 2003;13:307-311.
17. Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988;95:130-136.
18. Meier Y, Pauli-Magnus C, Zanger UM, Klein K, Schaeffeler E, Nussler AK, et al. Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver. Hepatology 2006;44:62-74.
19. Stieger B, Geier A. Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis. Expert Opin Drug Metab Toxicol 2011;7:411-425.
20. Rodriguez OC, Cheney RE. Human myosin-Vc is a novel class V myosin expressed in epithelial cells. J Cell Sci 2002;115:991-1004.
21. Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997;26:155-164.
22. Evason K, Bove KE, Finegold MJ, Knisely AS, Rhee S, Rosenthal P, et al. Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. Am J Surg Pathol 2011;35:687-696.
23. Arias RF, Ramonet M, Ciocca M, Costa JA, Koch OR. Liver ultrastructure in congenital atresia of the extrahepatic bile ducts. Acta Gastroenterol Latinoam 1984;14:265-271.
24. Colomb V, Dabbas-Tyan M, Taupin P, Talbotec C, Révillon Y, Jan D, et al. Long-term outcome of children receiving home parenteral nutrition: a 20-year single-center experience in 302 patients. J Pediatr Gastroenterol Nutr 2007;44:347-353.
25. Yadav DK, Gera DN, Gumber MR, Kute VB, Patel MP, Vanikar AV, Trivedi HL. Tacrolimus-induced severe cholestasis complicating renal transplantation. Ren Fail 2013;35:735-737.
26. Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, et al. Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion. BMC Gastroenterol 2008;8:47.
27. Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, et al. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet 2010;42:303-312.
28. Bandler PE, Westlake CJ, Grant CE, Cole SPC, Deeley RG. Identification of regions required for apical membrane localization of human multidrug resistance protein 2. Mol Pharmacol 2008;74:9-19.
29. Chan W, Calderon G, Swift AL, Moseley J, Li S, Hosoya H, et al. Myosin II regulatory light chain is required for trafficking of bile salt export protein to the apical membrane in Madin-Darby canine kidney cells. J Biol Chem 2005;280:23741-23747.
30. Hofmann AF. Inappropriate ileal conservation of bile acids in cholestatic liver disease: homeostasis gone awry. Gut 2003;52:1239-1241.
31. Inagaki T, Choi M, Moschetta A, Peng L, Cummins CL, McDonald JG, et al. Fibroblast growth factor 15 functions as an enterohepatic signal to regulate bile acid homeostasis. Cell Metab 2005;2:217-225.
32. Schukfeh N, Metzelder ML, Petersen C, Reismann M, Pfister ED, Ure BM, et al. Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis. J Pediatr Surg 2012;47:501-505.
33. Kurbegov AC, Setchell KDR, Haas JE, Mierau GW, Narkewicz M, Bancroft JD, et al. Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. Gastroenterology 2003;125:1227-1234.