Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype.

Détails

ID Serval
serval:BIB_494CBB480254
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype.
Périodique
The Journal of clinical investigation
Auteur⸱e⸱s
Brendel C., Guda S., Renella R., Bauer D.E., Canver M.C., Kim Y.J., Heeney M.M., Klatt D., Fogel J., Milsom M.D., Orkin S.H., Gregory R.I., Williams D.A.
ISSN
1558-8238 (Electronic)
ISSN-L
0021-9738
Statut éditorial
Publié
Date de publication
03/10/2016
Peer-reviewed
Oui
Volume
126
Numéro
10
Pages
3868-3878
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Reducing expression of the fetal hemoglobin (HbF) repressor BCL11A leads to a simultaneous increase in γ-globin expression and reduction in β-globin expression. Thus, there is interest in targeting BCL11A as a treatment for β-hemoglobinopathies, including sickle cell disease (SCD) and β-thalassemia. Here, we found that using optimized shRNAs embedded within an miRNA (shRNAmiR) architecture to achieve ubiquitous knockdown of BCL11A profoundly impaired long-term engraftment of both human and mouse hematopoietic stem cells (HSCs) despite a reduction in nonspecific cellular toxicities. BCL11A knockdown was associated with a substantial increase in S/G2-phase human HSCs after engraftment into immunodeficient (NSG) mice, a phenotype that is associated with HSC exhaustion. Lineage-specific, shRNAmiR-mediated suppression of BCL11A in erythroid cells led to stable long-term engraftment of gene-modified cells. Transduced primary normal or SCD human HSCs expressing the lineage-specific BCL11A shRNAmiR gave rise to erythroid cells with up to 90% reduction of BCL11A protein. These erythrocytes demonstrated 60%-70% γ-chain expression (vs. < 10% for negative control) and a corresponding increase in HbF. Transplantation of gene-modified murine HSCs from Berkeley sickle cell mice led to a substantial improvement of sickle-associated hemolytic anemia and reticulocytosis, key pathophysiological biomarkers of SCD. These data form the basis for a clinical trial application for treating sickle cell disease.

Pubmed
Web of science
Création de la notice
27/10/2016 14:43
Dernière modification de la notice
20/08/2019 14:56
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