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Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1

Am J Pathol. 2006 Jan;168(1):205-20. doi: 10.2353/ajpath.2006.050342.

Abstract

Mouse models for autosomal-dominant polycystic kidney disease (ADPKD), derived from homozygous targeted disruption of Pkd1 gene, generally die in utero or perinatally because of systemic defects. We introduced a loxP site and a loxP-flanked mc1-neo cassette into introns 30 and 34, respectively, of the Pkd1 locus to generate a conditional, targeted mutation. Significantly, before excision of the floxed exons and mc1-neo from the targeted locus by Cre recombinase, mice homozygous for the targeted allele appeared normal at birth but developed polycystic kidney disease with a slower progression than that of Pkd-null mice. Further, the homozygotes continued to produce low levels of full-length Pkd1-encoded protein, suggesting that slight Pkd1 expression is sufficient for renal cyst formation in ADPKD. In this viable model, up-regulation of heparin-binding epidermal growth factor-like growth factor accompanied increased epidermal growth factor receptor signaling, which may be involved in abnormal proliferation of the cyst-lining epithelia. Increased apoptosis in cyst epithelia was only observed in the later period that correlated with the cyst regression. Abnormalities in Na(+)/K(+)-ATPase, aquaporin-2, and vasopressin V2 receptor expression were also identified. This mouse model may be suitable for further studies of progression and therapeutic interventions of ADPKD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis / physiology
  • Aquaporin 2 / metabolism
  • Blotting, Western
  • Disease Models, Animal*
  • Epidermal Growth Factor / metabolism
  • ErbB Receptors / metabolism
  • Heparin-binding EGF-like Growth Factor
  • Immunohistochemistry
  • In Situ Nick-End Labeling
  • Intercellular Signaling Peptides and Proteins
  • Mice
  • Mice, Knockout
  • Mutation
  • Polycystic Kidney Diseases / genetics*
  • Polycystic Kidney Diseases / pathology
  • Proteins / genetics*
  • Proteins / metabolism
  • Receptors, Vasopressin / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sodium-Potassium-Exchanging ATPase / metabolism
  • TRPP Cation Channels

Substances

  • Aquaporin 2
  • Hbegf protein, mouse
  • Heparin-binding EGF-like Growth Factor
  • Intercellular Signaling Peptides and Proteins
  • Proteins
  • Receptors, Vasopressin
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein
  • Epidermal Growth Factor
  • ErbB Receptors
  • Sodium-Potassium-Exchanging ATPase