Uromodulin retention in thick ascending limb of Henle's loop affects SCD1 in neighboring proximal tubule: renal transcriptome studies in mouse models of uromodulin-associated kidney disease

PLoS One. 2014 Nov 19;9(11):e113125. doi: 10.1371/journal.pone.0113125. eCollection 2014.

Abstract

Uromodulin-associated kidney disease (UAKD) is a hereditary progressive renal disease which can lead to renal failure and requires renal replacement therapy. UAKD belongs to the endoplasmic reticulum storage diseases due to maturation defect of mutant uromodulin and its retention in the enlarged endoplasmic reticulum in the cells of the thick ascending limb of Henle's loop (TALH). Dysfunction of TALH represents the key pathogenic mechanism of UAKD causing the clinical symptoms of this disease. However, the molecular alterations underlying UAKD are not well understood. In this study, transcriptome profiling of whole kidneys of two mouse models of UAKD, UmodA227T and UmodC93F, was performed. Genes differentially abundant in UAKD affected kidneys of both Umod mutant lines at different disease stages were identified and verified by RT-qPCR. Additionally, differential protein abundances of SCD1 and ANGPTL7 were validated by immunohistochemistry and Western blot analysis. ANGPTL7 expression was down-regulated in TALH cells of Umod mutant mice which is the site of the mutant uromodulin maturation defect. SCD1 was expressed selectively in the S3 segment of proximal tubule cells, and SCD1 abundance was increased in UAKD affected kidneys. This finding demonstrates that a cross talk between two functionally distinct tubular segments of the kidney, the TALH segment and the S3 segment of proximal tubule, exists.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angiopoietin-Like Protein 7
  • Angiopoietin-like Proteins
  • Angiopoietins / genetics
  • Angiopoietins / metabolism
  • Animals
  • Disease Models, Animal
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Gout / genetics
  • Gout / metabolism*
  • Gout / pathology
  • Hyperuricemia / genetics
  • Hyperuricemia / metabolism*
  • Hyperuricemia / pathology
  • Kidney Diseases / genetics
  • Kidney Diseases / metabolism*
  • Kidney Diseases / pathology
  • Kidney Tubules, Proximal / metabolism*
  • Kidney Tubules, Proximal / pathology
  • Loop of Henle / metabolism*
  • Loop of Henle / pathology
  • Mice
  • Mice, Inbred C3H
  • Molecular Sequence Data
  • Sequence Analysis, DNA
  • Stearoyl-CoA Desaturase / genetics*
  • Stearoyl-CoA Desaturase / metabolism
  • Uromodulin / genetics*
  • Uromodulin / metabolism

Substances

  • ANGPTL7 protein, mouse
  • Angiopoietin-Like Protein 7
  • Angiopoietin-like Proteins
  • Angiopoietins
  • Umod protein, mouse
  • Uromodulin
  • Scd1 protein, mouse
  • Stearoyl-CoA Desaturase

Supplementary concepts

  • Juvenile gout

Associated data

  • GEO/GSE58513

Grants and funding

This work has been funded by the German Research Foundation (DFG) (grant number KE1673/1-1), by the German Federal Ministry of Education and Research (Infrafrontier grant 01KX1012) and by the German Center for Diabetes Research (DZD e.V.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.