Polycystic liver disease: Ductal plate malformation and the primary cilium

Trends in Molecular Medicine

Volumn 20, Issue 5, 2014, Pages 261-270

  Wills, Edgar S ^a   Roepman, Ronald ^a,b   Drenth, Joost P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Ductal plate malformation; Hepatic cystogenesis; Hepatobiliary organogenesis; Loss of heterozygosity; Polycystic liver disease; Primary cilium

Indexed keywords

BONE MORPHOGENETIC PROTEIN; CYCLIC AMP; FIBROBLAST GROWTH FACTOR; FIBROCYSTIN; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 3ALPHA; HEPATOCYTE NUCLEAR FACTOR 3BETA; HEPATOCYTE NUCLEAR FACTOR 6; NOTCH RECEPTOR; POLYCYSTIN; POLYCYSTIN 1; POLYCYSTIN 2; PROTEIN KINASE C; SOMATOSTATIN DERIVATIVE; TRANSFORMING GROWTH FACTOR BETA; WNT PROTEIN;

BILE DUCT; CELL FATE; CELL MATURATION; DUCTAL PLATE MALFORMATION; EUKARYOTIC FLAGELLUM; EXTRACELLULAR MATRIX; GENE MUTATION; HETEROZYGOSITY LOSS; KIDNEY POLYCYSTIC DISEASE; LIVER CELL; LIVER CYST; LIVER DEVELOPMENT; LIVER POLYCYSTIC DISEASE; NONHUMAN; ORGANOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PROTEIN PROCESSING; REVIEW; SIGNAL TRANSDUCTION; WNT SIGNALING PATHWAY; ANIMAL; CYST; GENETICS; HUMAN; INTRAHEPATIC BILE DUCT; LIVER DISEASE; METABOLISM;

ANIMALS; BILE DUCTS, INTRAHEPATIC; CILIA; CYSTS; HUMANS; LIVER DISEASES; SIGNAL TRANSDUCTION; TRPP CATION CHANNELS;

EID: 84899929999     PISSN: 14714914     EISSN: 1471499X     Source Type: Journal    
DOI: 10.1016/j.molmed.2014.01.003     Document Type: Review

References (68)

1. Lantinga M.A., et al. Evaluation of hepatic cystic lesions. World J. Gastroenterol. 2013, 19:3543-3554.
2. Drenth J.P., et al. Congenital fibrocystic liver diseases. Best Pract. Res. Clin. Gastroenterol. 2010, 24:573-584.
3. Harris P.C., Torres V.E. Polycystic kidney disease. Annu. Rev. Med. 2009, 60:321-337.
4. Bae K.T., et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin. J. Am. Soc. Nephrol. 2006, 1:64-69.
5. Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv. Chronic Kidney Dis. 2010, 17:173-180.
6. Van Keimpema L., et al. Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. Liver Int. 2011, 31:92-98.
7. Waanders E., et al. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Hum. Mutat. 2006, 27:830.
8. Janssen M.J., et al. Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease. Gastroenterology 2011, 141:2056-2063.
9. Pei Y. A "two-hit" model of cystogenesis in autosomal dominant polycystic kidney disease?. Trends Mol. Med. 2001, 7:151-156.
10. Janssen M.J., et al. Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease. PLoS ONE 2012, 7:e50324.
11. Desmet V.J. Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology 1992, 16:1069-1083.
12. Si-Tayeb K., et al. Organogenesis and development of the liver. Dev. Cell 2010, 18:175-189.
13. Antoniou A., et al. Intrahepatic bile ducts develop according to a new mode of tubulogenesis regulated by the transcription factor SOX9. Gastroenterology 2009, 136:2325-2333.
14. Ader T., et al. Transcriptional profiling implicates TGFβ/BMP and Notch signaling pathways in ductular differentiation of fetal murine hepatoblasts. Mech. Dev. 2006, 123:177-194.
15. Tchorz J.S., et al. Notch2 signaling promotes biliary epithelial cell fate specification and tubulogenesis during bile duct development in mice. Hepatology 2009, 50:871-879.
16. + liver stem cells induced by Wnt-driven regeneration. Nature 2013, 494:247-250.
17. Decaens T., et al. Stabilization of β-catenin affects mouse embryonic liver growth and hepatoblast fate. Hepatology 2008, 47:247-258.
18. Monga S.P., et al. Beta-catenin antisense studies in embryonic liver cultures: role in proliferation, apoptosis, and lineage specification. Gastroenterology 2003, 124:202-216.
19. Hussain S.Z., et al. Wnt impacts growth and differentiation in ex vivo liver development. Exp. Cell Res. 2004, 292:157-169.
20. Yanai M., et al. FGF signaling segregates biliary cell-lineage from chick hepatoblasts cooperatively with BMP4 and ECM components in vitro. Dev. Dyn. 2008, 237:1268-1283.
21. Murray K., Larson A. Fibrocystic Diseases of the Liver 2010, Humana Press.
22. Raynaud P., et al. A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis. Hepatology 2011, 53:1959-1966.
23. Carpentier R., et al. Embryonic ductal plate cells give rise to cholangiocytes, periportal hepatocytes, and adult liver progenitor cells. Gastroenterology 2011, 141:1432-1438.
24. Yamasaki H., et al. Suppression of C/EBPα expression in periportal hepatoblasts may stimulate biliary cell differentiation through increased Hnf6 and Hnf1b expression. Development 2006, 133:4233-4243.
25. Hunter M.P., et al. The homeobox gene Hhex is essential for proper hepatoblast differentiation and bile duct morphogenesis. Dev. Biol. 2007, 308:355-367.
26. Li Z., et al. Foxa1 and Foxa2 regulate bile duct development in mice. J. Clin. Invest. 2009, 119:1537-1545.
27. Kiyohashi K., et al. Wnt5a signaling mediates biliary differentiation of fetal hepatic stem/progenitor cells in mice. Hepatology 2013, 57:2502-2513.
28. Condac E., et al. Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:9416-9421.
29. Drenth J.P., et al. Polycystic liver disease is a disorder of cotranslational protein processing. Trends Mol. Med. 2005, 11:37-42.
30. Lang S., et al. Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells. J. Cell Sci. 2012, 125:1958-1969.
31. Janssen M.J., et al. Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. J. Hepatol. 2010, 52:432-440.
32. Fedeles S.V., et al. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat. Genet. 2011, 43:639-647.
33. 2 subunit. Biochemistry 2010, 49:3116-3128.
34. Kim Y.W., et al. TGF-β sensitivity is determined by N-linked glycosylation of the type II TGF-β receptor. Biochem. J. 2012, 445:403-411.
35. Jung H., et al. Mest/Peg1 inhibits Wnt signalling through regulation of LRP6 glycosylation. Biochem. J. 2011, 436:263-269.
36. Hildebrandt F., et al. Ciliopathies. N. Engl. J. Med. 2011, 364:1533-1543.
37. Masyuk T., et al. Cholangiociliopathies: genetics, molecular mechanisms and potential therapies. Curr. Opin. Gastroenterol. 2009, 25:265-271.
38. Masyuk A.I., et al. Ciliary subcellular localization of TGR5 determines the cholangiocyte functional response to bile acid signaling. Am. J. Physiol. Gastrointest. Liver Physiol. 2013, 304:G1013-G1024.
39. Masyuk A.I., et al. Cholangiocyte primary cilia are chemosensory organelles that detect biliary nucleotides via P2Y12 purinergic receptors. Am. J. Physiol. Gastrointest. Liver Physiol. 2008, 295:G725-G734.
40. Arts H., Knoers N. Cranioectodermal dysplasia. GeneReviews 2013, University of Washington. R.A. Pagon (Ed.).
41. Lin A.E., et al. Sensenbrenner syndrome (cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am. J. Med. Genet. A 2013, 161:2762-2776.
42. Williams C.L., et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J. Cell Biol. 2011, 192:1023-1041.
43. Tang Z., et al. Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature 2013, 502:254-257.
44. Richards W.G., et al. Oval cell proliferation associated with the murine insertional mutation TgN737Rpw. Am. J. Pathol. 1996, 149:1919-1930.
45. McIntyre J.C., et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat. Med. 2012, 18:1423-1428.
46. Clotman F., et al. Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome. Liver Int. 2008, 28:377-384.
47. Ma M., et al. Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease. Nat. Genet. 2013, 45:1004-1012.
48. van Keimpema L., et al. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology 2009, 137:1661-1668.
49. Gevers T.J., et al. Young women with polycystic liver disease respond best to somatostatin analogues: a pooled analysis of individual patient data. Gastroenterology 2013, 145:357-365.
50. Drenth J.P., et al. Medical and surgical treatment options for polycystic liver disease. Hepatology 2010, 52:2223-2230.
51. Masyuk T.V., et al. Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. Gastroenterology 2007, 132:1104-1116.
52. Ghosh A.K., et al. 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am. J. Physiol. Renal Physiol. 2012, 303:F1225-F1229.
53. Chrispijn M., et al. Everolimus does not further reduce polycystic liver volume when added to long acting octreotide: results from a randomized controlled trial. J. Hepatol. 2013, 59:153-159.
54. Besschetnova T.Y., et al. Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation. Curr. Biol. 2010, 20:182-187.
55. Wallace D.P. Cyclic AMP-mediated cyst expansion. Biochim. Biophys. Acta 2011, 1812:1291-1300.
56. Masyuk T.V., et al. Pasireotide is more effective than octreotide in reducing hepatorenal cystogenesis in rodents with polycystic kidney and liver diseases. Hepatology 2013, 58:409-421.
57. Chetty-John S., et al. Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). Am. J. Med. Genet. A 2010, 152A:2640-2645.
58. Toriello H.V., Franco B. Oral-facial-digital syndrome type I. GeneReviews 1993, University of Washington. R.A. Pagon (Ed.).
59. Black M.E., et al. Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. Clin. Genet. 2012, 82:552-557.
60. Hallett L., et al. Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. Curr. Med. Res. Opin. 2011, 27:1571-1583.
61. Karsdorp N., et al. Von Hippel-Lindau disease: new strategies in early detection and treatment. Am. J. Med. 1994, 97:158-168.
62. Kim J.J., et al. Von Hippel-Lindau syndrome. Adv. Exp. Med. Biol. 2010, 685:228-249.
63. Yang J., et al. Deficiency of hepatocystin induces autophagy through an mTOR-dependent pathway. Autophagy 2011, 7:748-759.
64. Pampliega O., et al. Functional interaction between autophagy and ciliogenesis. Nature 2013, 502:194-200.
65. 3-induced calcium release activity. J. Biol. Chem. 2009, 284:372-380.
66. Muller L., et al. An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease. FEBS Lett. 2011, 585:596-600.
67. Gao C., Chen Y.G. Dishevelled: the hub of Wnt signaling. Cell. Signal. 2010, 22:717-727.
68. Clotman F., et al. Control of liver cell fate decision by a gradient of TGFβ signaling modulated by Onecut transcription factors. Genes Dev. 2005, 19:1849-1854.