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Updated: Apr 6, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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A polycystin-centric view of cyst formation and disease: the polycystins revisited

Albert C M Ong1, Peter C Harris2

  • 1Kidney Genetics Group, Academic Nephrology Unit, Department of Infection and Immunity, University of Sheffield Medical School, Sheffield, UK.

Kidney International
|July 23, 2015
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) is linked to mutations in PKD1 and PKD2. This review details polycystin-1 and polycystin-2 functions and their role in cyst development.

Area of Science:

  • Nephrology
  • Molecular Biology
  • Genetics

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder.
  • Mutations in PKD1 and PKD2 are the primary cause of ADPKD.
  • The polycystin-1 and polycystin-2 proteins are encoded by these genes.

Purpose of the Study:

  • To review the functional investigations of polycystin-1 and polycystin-2.
  • To elucidate the mechanisms by which polycystin defects lead to cyst formation.
  • To present a current model of polycystin function in health and ADPKD.

Main Methods:

  • Literature review of studies on PKD1 and PKD2.
  • Analysis of research on polycystin protein function.
  • Synthesis of findings related to cystogenesis and nonrenal phenotypes.

Main Results:

  • Significant progress has been made in understanding polycystin-1 and polycystin-2 functions over the past 20 years.
  • Dysfunctional polycystins are implicated in the development of renal and nonrenal cysts.
  • A functional model integrating polycystin roles in cellular processes is emerging.

Conclusions:

  • Continued research into polycystin function is crucial for understanding ADPKD pathogenesis.
  • Elucidating polycystin mechanisms offers potential therapeutic targets for ADPKD.
  • The review provides a comprehensive overview of the current state of knowledge on polycystins in ADPKD.

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