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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Jiang, S-T; Chiou, Y-Y; Wang, E; Lin, H-K; Lin, Y-T; Chi, Y-C; Wang, C-KL; Tang, M-J; Li, H

Published Date

  • January 2006

Published In

Volume / Issue

  • 168 / 1

Start / End Page

  • 205 - 220

PubMed ID

  • 16400024

Pubmed Central ID

  • PMC1592650

International Standard Serial Number (ISSN)

  • 0002-9440

Digital Object Identifier (DOI)

  • 10.2353/ajpath.2006.050342

Language

  • eng

Conference Location

  • United States