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Isolation and Culture of Cells from the Nephrogenic Zone of the Embryonic Mouse Kidney
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Published on: April 22, 2011

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The PKD1 gene produces a developmentally regulated protein in mesenchyme and vasculature

J S Van Adelsberg1, D Frank

  • 1Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

Nature Medicine
|April 1, 1995
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder. Researchers identified the PKD1 protein

Area of Science:

  • Genetics
  • Molecular Biology
  • Nephrology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent human genetic disorder.
  • ADPKD manifests with polycystic kidneys, liver cysts, cardiac valve issues, and cerebral aneurysms.
  • Mutations in the PKD1 gene account for approximately 85% of ADPKD cases.

Purpose of the Study:

  • To characterize the PKD1 protein, the gene product of the most commonly mutated gene in ADPKD.
  • To investigate the localization and potential role of the PKD1 protein in kidney and liver development.

Main Methods:

  • Antibodies were generated against the predicted gene product of PKD1.
  • Immunohistochemical analysis was performed to determine the protein's localization in developing and adult tissues.

Main Results:

  • The PKD1 protein (530 kD) is localized to the extracellular matrix of kidney, liver, and cerebral blood vessels.
  • PKD1 is highly expressed in the developing kidney and liver mesenchyme.
  • In adult kidneys, PKD1 is found in perivascular, extraglomerular areas.

Conclusions:

  • The PKD1 protein is implicated in the morphogenesis of the kidney and liver.
  • Understanding PKD1's function may offer insights into ADPKD pathogenesis.

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