TGF-alpha mediates genetic susceptibility to chronic kidney disease

J Am Soc Nephrol. 2011 Feb;22(2):327-35. doi: 10.1681/ASN.2010040356. Epub 2010 Dec 23.

Abstract

The mechanisms of progression of chronic kidney disease (CKD) are poorly understood. Epidemiologic studies suggest a strong genetic component, but the genes that contribute to the onset and progression of CKD are largely unknown. Here, we applied an experimental model of CKD (75% excision of total renal mass) to six different strains of mice and found that only the FVB/N strain developed renal lesions. We performed a genome-scan analysis in mice generated by back-crossing resistant and sensitive strains; we identified a major susceptibility locus (Ckdp1) on chromosome 6, which corresponds to regions on human chromosome 2 and 3 that link with CKD progression. In silico analysis revealed that the locus includes the gene encoding the EGF receptor (EGFR) ligand TGF-α. TGF-α protein levels markedly increased after nephron reduction exclusively in FVB/N mice, and this increase preceded the development of renal lesions. Furthermore, pharmacologic inhibition of EGFR prevented the development of renal lesions in the sensitive FVB/N strain. These data suggest that variable TGF-α expression may explain, in part, the genetic susceptibility to CKD progression. EGFR inhibition may be a therapeutic strategy to counteract the genetic predisposition to CKD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chronic Disease
  • Genetic Predisposition to Disease*
  • Kidney Diseases / etiology
  • Kidney Diseases / genetics*
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • Mutation
  • Nephrons / pathology
  • Transforming Growth Factor alpha / genetics
  • Transforming Growth Factor alpha / physiology*

Substances

  • Transforming Growth Factor alpha