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

Vision Research

Volumn 43, Issue 8, 2003, Pages 919-926

  Anand, Vibha ^a   Barral, Duarte C ^b   Zeng, Yong ^a   Brunsmann, Frank ^c   Maguire, Albert M ^a   Seabra, Miguel C ^b   Bennett, Jean ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c Empirica Gesell Kommunikations/T ^*  (Germany)

Author keywords

Cell culture; Gene therapy; Mutant; Retinal degeneration; Retinal disease

Indexed keywords

COMPLEMENTARY DNA; PROTEIN; RAB ESCORT PROTEIN 1; UNCLASSIFIED DRUG;

CHOROIDEREMIA; CONFERENCE PAPER; CONTROLLED STUDY; CYTOMEGALOVIRUS; ENZYME ASSAY; EVALUATION; FEASIBILITY STUDY; FIBROBLAST; HUMAN; HUMAN TISSUE; LYMPHOCYTE; MEDICAL ASSESSMENT; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DETERMINATION; RETINA DEGENERATION; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; VIRUS RECOMBINANT; WESTERN BLOTTING; X CHROMOSOME LINKAGE;

EID: 0346665670     PISSN: 00426989     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0042-6989(02)00389-9     Document Type: Conference Paper

References (39)

1. Alexandrov K., Horiuchi H., Steele-Mortimer O., Seabra M.C., Zerial M. Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. EMBO Journal. 13:1994;5262-5273.
2. Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genetics. 15:1997;236-246.
3. Andres D.A., Seabra M.C., Brown M.S., Armstrong S.A., Smeland T.E., Cremers F.P., Goldstein J.L. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell. 73:1993;1091-1099.
4. Auricchio A., Kobinger G., Anand V., Hildinger M., O'Connor E., Maguire A., Wilson J., Bennett J. Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model. Human Molecular Genetics. 10:2001;3075-3081.
5. Bennett J., Duan D., Engelhardt J., Maguire A.M. Real-time non-invasive in vivo assessment of adeno-associated virus-mediated retinal transduction. Investigative Ophthalmology and Visual Science. 38:1997;2857-2863.
6. Bennett J., Maguire A.M., Cideciyan A.V., Schnell M., Glover E., Anand V., Aleman T.S., Chirumule N., Gupta A.R., Huang Y., Gao G.-P., Nyberg W.C., Tazelaar J., Hughes J., Wilson J.M., Jacobson S.G. Recombinant adeno-associated virus-mediated gene transfer to the monkey retina. Proceedings of the National Academy of Sciences of the USA. 96:1999;9920-9925.
7. Bennett J., Tanabe T., Sun D., Zeng Y., Kjeldbye H., Gouras P., Maguire A. Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nature Medicine. 2:1996;649-654.
8. Bennett J., Wilson J., Sun D., Forbes B., Maguire A. Adenovirus vector-mediated in vivo gene transfer into adult murine retina. Investigative Ophthalmology and Visual Science. 35:1994;2535-2542.
9. Bennett J., Zeng Y., Bajwa R., Klatt L., Li Y., Maguire A.M. Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse. Gene Therapy. 5:1998;1156-1164.
10. Bennett J., Zeng Y., Gupta A.R., Maguire A.M. Application of adenoviral vectors: analysis of eye development. Tuan R.S., Lo C.W. Developmental biology protocols. 2000;525-535 Humana Press, Totowa, NJ.
11. Bernstein S.L., Wong P. Regional expression of disease-related genes in human and monkey retina. Molecular Vision. 4:1998;. http://www.molvis.org/molvis/v4/p24.
12. Cremers F.P., Armstrong S.A., Seabra M.C., Brown M.S., Goldstein J.L. REP-2, a Rab escort protein encoded by the choroideremia-like gene. Journal of Biological Chemistry. 269:1994;2111-2117.
13. Cremers F.R.M., Sankila E.-M., Brunsmann F., Jay M., Jay B., Wright A., Pinckers A.J.L.G., Schwartz M., van de Pol D.J.R., Wieringa B., la Chapelle A., Pawlowitzki I.H., Ropers H.-H. Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. American Journal of Human Genetics. 47:1990;622-628.
14. Cremers F.P.M., van de Pol D.J.R., van Kerkhoff L.P.M., Wieringa B., Ropers H.-H. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 347:1990;674-677.
15. Desnoyers L., Anant J.S., Seabra M.C. Geranylgeranylation of rab proteins. Biochemical Society Transactions. 24:1996;699-703.
16. Dudus L., Anand V., Chen S.-J., Wilson J., Fisher K.J., Acland G., Maguire A.M., Bennett J. Persistent transgene product in retina, optic nerve and brain after intraocular injection of rAAV. Vision Research. 39:1999;2545-2554.
17. Flannery J.G., Bird A.C., Farber D.B., Weleber R.G., Bok D. A histopathologic study of a choroideremia carrier. Investigative Ophthalmology and Visual Science. 31:1990;229-236.
18. Forsythe P., Maguire A., Fujita R., Moen C., Swaroop A., Bennett J. A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555. → stop) in theCHM gene leads to Choroideremia Experimental Eye Research. 64:1997;487-490.
19. Fujita R., Skolnick C., Pastkis A.J., Yang Fen T.L., Swaroop A. Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13. Human Genetics. 95:1995;467.
20. Ghosh M., McCulloch J.C., Parker J.A. Pathological study in a female carrier of choroideremia. Canadian Journal of Ophthalmology. 23:1988;181-186.
21. Karna J. Choroideremia. A clinical and genetic study of 84 finnish patients and 126 female carriers. Copenhagen Archives of the Ophthalmological Supplement. 176:1986;1-68.
22. Krill A.E. Krill's hereditary retinal and choroidal diseases. Clinical characteristics. 1977;Harper and Row, Hagerstown.
23. Li T., Adamian M., Roof D.J., Berson E.L., Dryja T.P., Roessler B.J., Davidson B.L. In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. Investigative Ophthalmology and Visual Science. 35:1994;2543-2549.
24. MacDonald I., Mah D., Ho Y., Lewis R., Seabra M. A practical diagnostic test for choroideremia. Ophthalmology. 105:1998;1637-1640.
25. McKusick, V. (1994). Online Mendelian inheritance in man. National Center for Biotechnology Information (NCBI).
26. Rodrigues M., Ballintine E., Wiggert B., Lee L., Fletche R.R., Chader G. Choroideremia: a clinical, electron microscopic, and biochemical report. Ophthalmology. 91:1984;873-883.
27. Sankila E.-M., Tolvanen R., van den Hurk J.A.J.M., Cremers F.P.M., de la Chapelle A. Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nature Genetics. 1:1992;109-113.
28. Schwartz M., Rosenberg T., van den Hurk J.A.J.M., van depol D.J.R., Cremers F.P.M. Identification of mutations in Danish choroideremia families. Human Mutation. 2:1993;43-47.
29. Seabra M.C. New insights into the pathogenesis of choroideremia: a tale of two REPs. Ophthalmic Genetics. 17:1996;43-46.
30. Seabra M.C., Brown M.S., Slaughter C.A., Sudhof T.C., Goldstein J.L. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell. 70:1992;1049-1057.
31. Seabra M., James G. Prenylation assays for small GTPases. Bar-Sagi D. Transmembrane signaling protocols. 1999;251-260 Humana Press Inc, Totowa, NJ.
32. Sorsby, A., Franceshetti, A., Joseph, R., & Davey, J. B. (1952). Choroideremia: clinical and genetic aspects. British Journal of Opthalmology 36, 547-581.
33. Sun H., Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nature Genetics. 17:1997;15-16.
34. Syed N., Smith J., John S., Seabra M., Aguirre G., Milam A. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology. 108:2001;711-720.
35. van Bokhoven H., Schwartz M., Andreasson S., van den Hurk J., Bogerd L., Jay M., Ruther K., Jay B., Pawlowitzki I., Sankila E., Wright A., Ropers H., Rosenberg T., Cremers F.P.M. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Human Molecular Genetics. 3:1994;1047-1051.
36. van Bokhoven H., van den Hurk J., Bogard L., Philippe C., Gilgenkrantz S., de Jong P., Ropers H., Cremers F.P.M. Cloning and characterization of the human choroideremia gene. Human Molecular Genetics. 3:1994;1041-1046.
37. van den Hurk J.A.J.M., Hendriks W., Van de Pol D.J.R., Oerlemans F., Jaissle G., Ruther K., Kohler K., Hartmann J., Zrenner E., Van Bokhoven H., Wieringa B., Ropers H.-H., Cremers F.P.M. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Human Molecular Genetics. 6:1997;851-858.
38. van den Hurk J.A.J.M., van de Pol T.J.R., Molloy C.M., Brunsmann F., Ruther K., Zrenner E., Pinckers A.J.L.G., Pawlowitzki I.H., Bleeker-Wagemakers E.M., Wieringa B., Ropers H.-H., Cremers F.P.M. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. American Journal of Human Genetics. 50:1992;1195-1202.
39. Zufferey R., Nagy D., Mandel R.J., Naldini L., Trono D. Multiply attenuated lentiviral vector achieves efficient gene delivery in vivo. Nature Biotechnology. 15:1997;871-875.