Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus

Vision Res. 2003 Apr;43(8):919-26. doi: 10.1016/s0042-6989(02)00389-9.


Choroideremia (CHM) is an X-linked retinal degenerative disease resulting from a lack of functional Rab Escort Protein-1 (REP-1). As a first step in developing gene-based therapies for this disease, we evaluated the feasibility of delivering functional REP-1 to defective lymphocytes and fibroblasts isolated from individuals with CHM. A recombinant adenovirus delivering the full-length human cDNA encoding REP-1 under the control of a cytomegalovirus promoter was generated. Adenovirus-mediated delivery of REP-1 rescued the defective cells as assessed through protein and enzymatic assays. Ultimately, it may be possible to use virus-mediated delivery of REP-1 to evaluate disease intervention in vivo.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adenoviridae / genetics
  • Alkyl and Aryl Transferases*
  • Cells, Cultured
  • Choroideremia / metabolism*
  • Choroideremia / pathology
  • Choroideremia / therapy
  • DNA, Complementary / genetics
  • Feasibility Studies
  • Fibroblasts / metabolism
  • Gene Transfer Techniques
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Humans
  • Lymphocytes / metabolism
  • rab GTP-Binding Proteins / genetics*
  • rab GTP-Binding Proteins / metabolism


  • Adaptor Proteins, Signal Transducing
  • CHM protein, human
  • DNA, Complementary
  • Alkyl and Aryl Transferases
  • rab GTP-Binding Proteins