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Polycystic liver disease: ductal plate malformation and the primary cilium

Edgar S Wills1, Ronald Roepman2, Joost P H Drenth3

  • 1Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.

Trends in Molecular Medicine
|February 11, 2014
PubMed

Insights

Polycystic liver diseases, including autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD), arise from genetic mutations. This review explores molecular drivers of hepatic cystogenesis and hepatobiliary development.

Area of Science:

  • Hepatology
  • Developmental Biology
  • Genetics

Background:

  • Polycystic livers are a hallmark of autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD).
  • ADPKD is primarily caused by mutations in PKD1 and PKD2, while PCLD involves PRKCSH or SEC63 mutations in 20% of cases.
  • Cyst formation originates from ductal plate malformations driven by loss of heterozygosity in hepatoblasts, but the precise molecular mechanisms remain unclear.

Purpose of the Study:

  • To review key factors in hepatobiliary development and identify molecular players involved in hepatic cystogenesis.
  • To elucidate the underlying causes of polycystic liver diseases.

Main Methods:

  • Literature review of recent advances in hepatobiliary organogenesis.
  • Analysis of signaling pathways, transcriptional regulators, and cilium function in liver development and disease.

Main Results:

  • Transforming growth factor (TGF)-β, Notch, and Wnt signaling pathways are crucial in hepatobiliary development.
  • Transcriptional regulators like hepatocyte nuclear factor (HNF)6 and HNF1β play significant roles.
  • Defects in primary cilium formation, including mutations or processing issues, are implicated in polycystic liver disease.

Conclusions:

  • Understanding the molecular basis of hepatic cystogenesis requires integrating knowledge of developmental pathways and genetic factors.
  • Further research into these pathways and cilium function is essential for developing targeted therapies for polycystic liver diseases.

Keywords:
ductal plate malformationhepatic cystogenesishepatobiliary organogenesisloss of heterozygositypolycystic liver diseaseprimary cilium

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