Selective dicer suppression in the kidney alters GSK3β/β-catenin pathways promoting a glomerulocystic disease

PLoS One. 2015 Mar 23;10(3):e0119142. doi: 10.1371/journal.pone.0119142. eCollection 2015.

Abstract

Dicer is a crucial enzyme for the maturation of miRNAs. Mutations in the Dicer gene are highly associated with Pleuro Pulmonary Blastoma-Family Dysplasia Syndrome (PPB-FDS, OMIM 601200), recently proposed to be renamed Dicer syndrome. Aside from the pulmonary phenotype (blastoma), renal nephroma and thyroid goiter are frequently part of Dicer syndrome. To investigate the renal phenotype, conditional knockout (cKO) mice for Dicer in Pax8 expressing cells were generated. Dicer cKO mice progressively develop a glomerulocystic phenotype coupled with urinary concentration impairment, proteinuria and severe renal failure. Higher cellular turnover of the parietal cells of Bowman's capsule precedes the development of the cysts and the primary cilium progressively disappears with cyst-enlargement. Upregulation of GSK3β precedes the development of the glomerulocystic phenotype. Downregulation of β-catenin in the renal cortex and its cytosolic removal in the cells lining the cysts may be associated with observed accumulation of GSK3β. Alterations of β-catenin regulating pathways could promote cystic degeneration as in other models. Thus, miRNAs are fundamental in preserving renal morphology and function. Alteration of the GSK3β/β-catenin pathway could be a crucial mechanism linking miRNA dysregulation and the development of a glomerulocystic disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DEAD-box RNA Helicases / genetics*
  • DEAD-box RNA Helicases / metabolism
  • Gene Expression Regulation
  • Glycogen Synthase Kinase 3 / metabolism*
  • Glycogen Synthase Kinase 3 beta
  • Kidney / metabolism
  • Kidney / pathology*
  • Kidney Diseases, Cystic / genetics*
  • Kidney Diseases, Cystic / pathology
  • Mice
  • Mice, Knockout
  • PAX8 Transcription Factor
  • Paired Box Transcription Factors / metabolism
  • Ribonuclease III / genetics*
  • Ribonuclease III / metabolism
  • Signal Transduction
  • beta Catenin / metabolism*

Substances

  • PAX8 Transcription Factor
  • Paired Box Transcription Factors
  • Pax8 protein, mouse
  • beta Catenin
  • Glycogen Synthase Kinase 3 beta
  • Gsk3b protein, mouse
  • Glycogen Synthase Kinase 3
  • Dicer1 protein, mouse
  • Ribonuclease III
  • DEAD-box RNA Helicases

Grants and funding

This work was supported by a grant from the Italian Ministry Scientific Research to G.C. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.