Integrated protein quality-control pathways regulate free α-globin in murine β-thalassemia

Blood. 2012 May 31;119(22):5265-75. doi: 10.1182/blood-2011-12-397729. Epub 2012 Mar 16.

Abstract

Cells remove unstable polypeptides through protein quality-control (PQC) pathways such as ubiquitin-mediated proteolysis and autophagy. In the present study, we investigated how these pathways are used in β-thalassemia, a common hemoglobinopathy in which β-globin gene mutations cause the accumulation and precipitation of cytotoxic α-globin subunits. In β-thalassemic erythrocyte precursors, free α-globin was polyubiquitinated and degraded by the proteasome. These cells exhibited enhanced proteasome activity, and transcriptional profiling revealed coordinated induction of most proteasome subunits that was mediated by the stress-response transcription factor Nrf1. In isolated thalassemic cells, short-term proteasome inhibition blocked the degradation of free α-globin. In contrast, prolonged in vivo treatment of β-thalassemic mice with the proteasome inhibitor bortezomib did not enhance the accumulation of free α-globin. Rather, systemic proteasome inhibition activated compensatory proteotoxic stress-response mechanisms, including autophagy, which cooperated with ubiquitin-mediated proteolysis to degrade free α-globin in erythroid cells. Our findings show that multiple interregulated PQC responses degrade excess α-globin. Therefore, β-thalassemia fits into the broader framework of protein-aggregation disorders that use PQC pathways as cell-protective mechanisms.

Publication types

  • Clinical Trial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alpha-Globulins / genetics
  • Alpha-Globulins / metabolism*
  • Animals
  • Antineoplastic Agents / pharmacology*
  • Boronic Acids / pharmacology*
  • Bortezomib
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Erythroid Precursor Cells / metabolism*
  • Female
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Mutation
  • Nuclear Respiratory Factor 1 / genetics
  • Nuclear Respiratory Factor 1 / metabolism
  • Proteasome Endopeptidase Complex / genetics
  • Proteasome Endopeptidase Complex / metabolism
  • Proteasome Inhibitors*
  • Proteolysis / drug effects*
  • Pyrazines / pharmacology*
  • Ubiquitination / drug effects*
  • Ubiquitination / genetics
  • beta-Thalassemia / drug therapy*
  • beta-Thalassemia / genetics
  • beta-Thalassemia / metabolism

Substances

  • Alpha-Globulins
  • Antineoplastic Agents
  • Boronic Acids
  • Nrf1 protein, mouse
  • Nuclear Respiratory Factor 1
  • Proteasome Inhibitors
  • Pyrazines
  • Bortezomib
  • Proteasome Endopeptidase Complex