Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling

Cancer Cell. 2011 Oct 18;20(4):524-37. doi: 10.1016/j.ccr.2011.09.006.

Abstract

The Krebs cycle enzyme fumarate hydratase (FH) is a human tumor suppressor whose inactivation is associated with the development of leiomyomata, renal cysts, and tumors. It has been proposed that activation of hypoxia inducible factor (HIF) by fumarate-mediated inhibition of HIF prolyl hydroxylases drives oncogenesis. Using a mouse model, we provide genetic evidence that Fh1-associated cyst formation is Hif independent, as is striking upregulation of antioxidant signaling pathways revealed by gene expression profiling. Mechanistic analysis revealed that fumarate modifies cysteine residues within the Kelch-like ECH-associated protein 1 (KEAP1), abrogating its ability to repress the Nuclear factor (erythroid-derived 2)-like 2 (Nrf2)-mediated antioxidant response pathway, suggesting a role for Nrf2 dysregulation in FH-associated cysts and tumors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism*
  • Animals
  • Antioxidants / metabolism
  • Cell Hypoxia
  • Cytoskeletal Proteins / metabolism*
  • Fumarate Hydratase / genetics
  • Fumarate Hydratase / metabolism
  • Fumarate Hydratase / physiology*
  • Fumarates / metabolism*
  • Gene Expression Regulation, Neoplastic
  • Hypoxia-Inducible Factor 1 / genetics
  • Hypoxia-Inducible Factor 1 / metabolism
  • Kelch-Like ECH-Associated Protein 1
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / metabolism*
  • Mice
  • NF-E2-Related Factor 2 / metabolism*
  • Procollagen-Proline Dioxygenase / metabolism
  • Signal Transduction
  • Succinates / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • Antioxidants
  • Cytoskeletal Proteins
  • Fumarates
  • Hypoxia-Inducible Factor 1
  • Keap1 protein, mouse
  • Kelch-Like ECH-Associated Protein 1
  • NF-E2-Related Factor 2
  • Succinates
  • Procollagen-Proline Dioxygenase
  • Fumarate Hydratase

Associated data

  • GEO/GSE29988