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Cited by 54Genetic and Kidney Cyst DiseasesGlycogen Storage Diseases and MyoclonusGlycosylation and Glycoproteins Research

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Congenital disorders of glycosylation in hepatology: The example of polycystic liver disease

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Janssen, Manoe J., Waanders, Esmé, Woudenberg, Jannes, Lefeber, Dirk J., Drenth, Joost P.H.·2010·Journal of Hepatology
DOI 10.1016/j.jhep.2009.12.011
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Abstract

Autosomal dominant polycystic liver disease (PCLD) is a rare progressive disorder characterized by an increased liver volume due to many (>20) fluid-filled cysts of biliary origin. Disease causing mutations in PRKCSH or SEC63 are found in approximately 25% of the PCLD patients. Both gene products function in the endoplasmic reticulum, however, the molecular mechanism behind cyst formation remains to be elucidated. As part of the translocon complex, SEC63 plays a role in protein import into the ER and is implicated in the export of unfolded proteins to the cytoplasm during ER-associated degradation (ERAD). PRKCSH codes for the beta-subunit of glucosidase II (hepatocystin), which cleaves two glucose residues of Glc(3)Man(9)GlcNAc(2) N-glycans on proteins. Hepatocystin is thereby directly involved in the protein folding process by regulating protein binding to calnexin/calreticulin in the ER. A separate group of genetic diseases affecting protein N-glycosylation in the ER is formed by the congenital disorders of glycosylation (CDG). In distinct subtypes of this autosomal recessive multisystem disease specific liver symptoms have been reported that overlap with PCLD. Recent research revealed novel insights in PCLD disease pathology such as the absence of hepatocystin from cyst epithelia indicating a two-hit model for PCLD cystogenesis. This opens the way to speculate about a recessive mechanism for PCLD pathophysiology and shared molecular pathways between CDG and PCLD. In this review we will discuss the clinical-genetic features of PCLD and CDG as well as their biochemical pathways with the aim to identify novel directions of research into cystogenesis.

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Metadata

Authors
Janssen, M. J., Waanders, E., Woudenberg, J., Lefeber, D. J., & Drenth, J. P. H.
Affiliations
Radboud University Medical Center (NL)
Corresponding author
Drenth, Joost P.H.
ORCID
Venue
Journal of Hepatology
Publisher
Elsevier BV
Published
2010-03
Volume
52
Issue
3
Pages
432-440
ISSN
0168-8278 (ISSN-L)
DOI
10.1016/j.jhep.2009.12.011
OpenAlex
W2147826970
Cited by
54
References
4
Citations by year
2026: 2 · 2025: 1 · 2024: 4 · 2023: 1 · 2022: 2 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 5 · 2016: 2 · 2015: 3 · 2014: 8 · 2013: 7 · 2012: 7
FWCI
0.38
Type
journal article
Language
en
Open access
Licence
Locations
  • Journal of Hepatology (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
Keywords
congenital disorders of glycosylation, autosomal dominant polycystic liver disease, PRKCSH, SEC63, glucosidase II, N-glycosylation, endoplasmic reticulum, ER-associated degradation, cyst formation, two-hit model, cyst epithelium, protein folding
MeSH terms
Calcium-Binding Proteins, Cysts, Glucosidases, Glycosylation, Humans, Liver Diseases, Membrane Proteins, RNA-Binding Proteins, Molecular Chaperones, Intracellular Signaling Peptides and Proteins

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