Literature DB >> 19349863

Cholangiociliopathies: genetics, molecular mechanisms and potential therapies.

Tatyana Masyuk1, Anatoliy Masyuk, Nicholas LaRusso.   

Abstract

PURPOSE OF REVIEW: The present review summarizes recent knowledge on polycystic liver diseases (PCLDs), mechanisms of hepatic cystogenesis and potential therapies for these conditions. RECENT
FINDINGS: PCLD may be classified as cholangiociliopathies. In PCLD associated with polycystic kidney disease, cell proliferation is one of the major mechanisms of cystogenesis, whereas in isolated PCLD (autosomal dominant polycystic liver disease), disrupted cell adhesion may be more important in cyst progression. In cystic cholangiocytes, overexpression of ion transporters and water channels facilitates fluid secretion into the cystic lumen, and growth factors, estrogens and cytokines promote cholangiocyte proliferation. With age, cholangiocytes lining liver cysts acquire features of mesenchymal cells contributing to hepatic fibrocystogenesis. A novel mechanism of liver cyst expansion in PCLD involves microRNA regulatory pathways. Hyperproliferation of cystic cholangiocytes is linked to abnormalities in cell cycle progression and microRNA expression. Decreased levels of miR-15a are coupled to upregulation of its target--the cell cycle regulator, Cdc25A. Cholangiocyte cilia in liver cysts are structurally abnormal. Somatostatin analogues and sirolimus reduce liver cyst volume in PCLD patients.
SUMMARY: Clarification of molecular mechanisms of hepatic cystogenesis provides an opportunity for the development of targeted therapeutic options in PCLD.

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Year:  2009        PMID: 19349863      PMCID: PMC3831343          DOI: 10.1097/MOG.0b013e328328f4ff

Source DB:  PubMed          Journal:  Curr Opin Gastroenterol        ISSN: 0267-1379            Impact factor:   3.287


  45 in total

Review 1.  Cystic kidney diseases: learning from animal models.

Authors:  Evelyne Fischer; Lionel Gresh; Andreas Reimann; Marco Pontoglio
Journal:  Nephrol Dial Transplant       Date:  2004-11       Impact factor: 5.992

2.  Polycystic liver disease: new insights into disease pathogenesis.

Authors:  Tatyana Masyuk; Nicholas LaRusso
Journal:  Hepatology       Date:  2006-05       Impact factor: 17.425

Review 3.  Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

Authors:  Friedhelm Hildebrandt; Edgar Otto
Journal:  Nat Rev Genet       Date:  2005-12       Impact factor: 53.242

4.  The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Authors:  Christopher J Ward; Marie C Hogan; Sandro Rossetti; Denise Walker; Tam Sneddon; Xiaofang Wang; Vicky Kubly; Julie M Cunningham; Robert Bacallao; Masahiko Ishibashi; Dawn S Milliner; Vicente E Torres; Peter C Harris
Journal:  Nat Genet       Date:  2002-02-04       Impact factor: 38.330

5.  Molecular pathogenesis of ADPKD: the polycystin complex gets complex.

Authors:  Albert C M Ong; Peter C Harris
Journal:  Kidney Int       Date:  2005-04       Impact factor: 10.612

6.  Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).

Authors:  C Bergmann; F Küpper; C P Schmitt; U Vester; T J Neuhaus; J Senderek; K Zerres
Journal:  J Med Genet       Date:  2005-10       Impact factor: 6.318

7.  Structural and functional analyses of liver cysts from the BALB/c-cpk mouse model of polycystic kidney disease.

Authors:  Monalisa N Muchatuta; Vincent H Gattone; Frank A Witzmann; Bonnie L Blazer-Yost
Journal:  Exp Biol Med (Maywood)       Date:  2008-11-07

Review 8.  Polycystic disease of the liver.

Authors:  Gregory T Everson; Matthew R G Taylor; R Brian Doctor
Journal:  Hepatology       Date:  2004-10       Impact factor: 17.425

Review 9.  Renal cystic diseases: a review.

Authors:  Michele Bisceglia; Carlos A Galliani; Christof Senger; Carmine Stallone; Adalberto Sessa
Journal:  Adv Anat Pathol       Date:  2006-01       Impact factor: 3.875

10.  Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

Authors:  Magdalena Adeva; Mounif El-Youssef; Sandro Rossetti; Patrick S Kamath; Vickie Kubly; Mark B Consugar; Dawn M Milliner; Bernard F King; Vicente E Torres; Peter C Harris
Journal:  Medicine (Baltimore)       Date:  2006-01       Impact factor: 1.889

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  39 in total

Review 1.  Cilia in vertebrate development and disease.

Authors:  Edwin C Oh; Nicholas Katsanis
Journal:  Development       Date:  2012-02       Impact factor: 6.868

2.  Diagnostic and therapeutic potentials of microRNAs in cholangiopathies.

Authors:  Indsey Kennedy; Heather Francis; Fanyin Meng; Shannon Glaser; Gianfranco Alpini
Journal:  Liver Res       Date:  2017-04-26

3.  Calcium signaling in cilia and ciliary-mediated intracellular calcium signaling: are they independent or coordinated molecular events?

Authors:  Anatoliy I Masyuk; Sergio A Gradilone; Nicholas F LaRusso
Journal:  Hepatology       Date:  2014-10-02       Impact factor: 17.425

4.  The role of cilia in the regulation of bile flow.

Authors:  Nicholas F Larusso; Tetyana V Masyuk
Journal:  Dig Dis       Date:  2011-06-17       Impact factor: 2.404

Review 5.  Regulation of biliary proliferation by neuroendocrine factors: implications for the pathogenesis of cholestatic liver diseases.

Authors:  Md Kamruzzaman Munshi; Sally Priester; Eugenio Gaudio; Fuquan Yang; Gianfranco Alpini; Romina Mancinelli; Candace Wise; Fanyn Meng; Antonio Franchitto; Paolo Onori; Shannon S Glaser
Journal:  Am J Pathol       Date:  2011-02       Impact factor: 4.307

6.  TGR5 in the Cholangiociliopathies.

Authors:  Tatyana V Masyuk; Anatoliy I Masyuk; Nicholas F LaRusso
Journal:  Dig Dis       Date:  2015-05-27       Impact factor: 2.404

7.  Polycystic liver disease: The interplay of genes causative for hepatic and renal cystogenesis.

Authors:  Tatyana V Masyuk; Anatoliy I Masyuk; Nicholas F LaRusso
Journal:  Hepatology       Date:  2018-04-19       Impact factor: 17.425

8.  HDAC6 is overexpressed in cystic cholangiocytes and its inhibition reduces cystogenesis.

Authors:  Sergio A Gradilone; Stefan Habringer; Tatyana V Masyuk; Brynn N Howard; Anatoliy I Masyuk; Nicholas F Larusso
Journal:  Am J Pathol       Date:  2014-01-13       Impact factor: 4.307

Review 9.  Therapeutic Targets in Polycystic Liver Disease.

Authors:  Tatyana V Masyuk; Anatoliy I Masyuk; Nicholas F LaRusso
Journal:  Curr Drug Targets       Date:  2017       Impact factor: 3.465

10.  MicroRNAs in Cholangiopathies.

Authors:  Steven P O'Hara; Sergio A Gradilone; Tetyana V Masyuk; James H Tabibian; Nicholas F LaRusso
Journal:  Curr Pathobiol Rep       Date:  2014-09-01
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