Non-viral DNA delivery and TALEN editing correct the sickle cell mutation in hematopoietic stem cells

Nat Commun. 2024 Jun 11;15(1):4965. doi: 10.1038/s41467-024-49353-3.

Abstract

Sickle cell disease is a devastating blood disorder that originates from a single point mutation in the HBB gene coding for hemoglobin. Here, we develop a GMP-compatible TALEN-mediated gene editing process enabling efficient HBB correction via a DNA repair template while minimizing risks associated with HBB inactivation. Comparing viral versus non-viral DNA repair template delivery in hematopoietic stem and progenitor cells in vitro, both strategies achieve comparable HBB correction and result in over 50% expression of normal adult hemoglobin in red blood cells without inducing β-thalassemic phenotype. In an immunodeficient female mouse model, transplanted cells edited with the non-viral strategy exhibit higher engraftment and gene correction levels compared to those edited with the viral strategy. Transcriptomic analysis reveals that non-viral DNA repair template delivery mitigates P53-mediated toxicity and preserves high levels of long-term hematopoietic stem cells. This work paves the way for TALEN-based autologous gene therapy for sickle cell disease.

MeSH terms

  • Anemia, Sickle Cell* / genetics
  • Anemia, Sickle Cell* / therapy
  • Animals
  • DNA Repair
  • Disease Models, Animal
  • Female
  • Gene Editing* / methods
  • Gene Transfer Techniques
  • Genetic Therapy* / methods
  • Hematopoietic Stem Cell Transplantation
  • Hematopoietic Stem Cells* / metabolism
  • Humans
  • Mice
  • Mutation
  • Transcription Activator-Like Effector Nucleases* / genetics
  • Transcription Activator-Like Effector Nucleases* / metabolism
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism
  • beta-Globins / genetics
  • beta-Thalassemia / genetics
  • beta-Thalassemia / therapy

Substances

  • Transcription Activator-Like Effector Nucleases
  • beta-Globins
  • Tumor Suppressor Protein p53