Feasibility of using NF1-GRD and AAV for gene replacement therapy in NF1-associated tumors

Gene Ther. 2019 Jun;26(6):277-286. doi: 10.1038/s41434-019-0080-9. Epub 2019 May 24.

Abstract

Neurofibromatosis type 1, including the highly aggressive malignant peripheral nerve sheath tumors (MPNSTs), is featured by the loss of functional neurofibromin 1 (NF1) protein resulting from genetic alterations. A major function of NF1 is suppressing Ras activities, which is conveyed by an intrinsic GTPase-activating protein-related domain (GRD). In this study, we explored the feasibility of restoring Ras GTPase via exogenous expression of various GRD constructs, via gene delivery using a panel of adeno-associated virus (AAV) vectors in MPNST and human Schwann cells (HSCs). We demonstrated that several AAV serotypes achieved favorable transduction efficacies in those cells and a membrane-targeting GRD fused with an H-Ras C-terminal motif (C10) dramatically inhibited the Ras pathway and MPNST cells in a NF1-specific manner. Our results opened up a venue of gene replacement therapy in NF1-related tumors.

Publication types

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

MeSH terms

  • Cell Line
  • Cell Line, Tumor
  • Cells, Cultured
  • Dependovirus / genetics*
  • Feasibility Studies
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Humans
  • Neurofibromatosis 1 / therapy*
  • Neurofibromin 1 / chemistry
  • Neurofibromin 1 / genetics*
  • Neurofibromin 1 / metabolism
  • Protein Domains
  • Schwann Cells / metabolism
  • ras Proteins / genetics
  • ras Proteins / metabolism

Substances

  • NF1 protein, human
  • Neurofibromin 1
  • ras Proteins