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

E Khandros, CS Thom, J D'Souza… - Blood, The Journal of …, 2012 - ashpublications.org
E Khandros, CS Thom, J D'Souza, MJ Weiss
Blood, The Journal of the American Society of Hematology, 2012ashpublications.org
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 …
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.
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