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

Abstract

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.

• Authors: Vibha Anand, Duarte C Barral, Yong Zeng, Frank Brunsmann, Albert M Maguire, Miguel C Seabra, Jean Bennett
• Journal: Vision research (Vision Res) Vol. 43 Issue 8 Pg. 919-26 (Apr 2003) ISSN: 0042-6989 [Print] England
• PMID: 12668061 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

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

Topics

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