Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapy

Journal of Gene Medicine

Volumn 5, Issue 9, 2003, Pages 757-764

  Schlichtenbrede, Frank C ^a   da Cruz, Lyndon ^a   Stephens, Clare ^a   Smith, Alexander J ^a   Georgiadis, Anastasios ^b   Thrasher, Adrian J ^b   Bainbridge, James W B ^a   Seeliger, Mathias W ^c   Ali, Robin R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

ERG; Gene transfer; Retinal degeneration; Viral vector

Indexed keywords

COMPLEMENTARY DNA; PARVOVIRUS VECTOR; PERIPHERIN; PERIPHERIN 2; UNCLASSIFIED DRUG; INTERMEDIATE FILAMENT PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B WAVE; CONTROLLED STUDY; ELECTRON MICROSCOPY; ELECTRORETINOGRAPHY; GENE REPLACEMENT THERAPY; HISTOLOGY; MEDICAL ASSESSMENT; MOUSE; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA DEGENERATION; TRANSMISSION ELECTRON MICROSCOPY; TREATMENT OUTCOME; VIRAL GENE DELIVERY SYSTEM; ADENO ASSOCIATED VIRUS; ANIMAL; CYTOLOGY; DISEASE MODEL; GENE THERAPY; GENE VECTOR; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; RETINA; TIME; ULTRASTRUCTURE;

ANIMALS; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; GENE THERAPY; GENETIC VECTORS; INTERMEDIATE FILAMENT PROTEINS; MEMBRANE GLYCOPROTEINS; MICE; NERVE TISSUE PROTEINS; PHOTORECEPTORS, VERTEBRATE; RETINA; RETINAL DEGENERATION; TIME FACTORS;

EID: 0038335879     PISSN: 1099498X     EISSN: None     Source Type: Journal    
DOI: 10.1002/jgm.401     Document Type: Article

References (23)

1. Bessant DA, Ali RR, Bhattacharya SS. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 2001; 11: 307-316.
2. Bok D, Yasumura D, Mattlies MT, et al. Effects of adenoassociated virus-vectored ciliary neurotrophic factor on retinal structure and function in mice with a P216L rds/peripherin mutation. Exp Eye Res 2002; 74: 719-735.
3. Cayouette M, Smith SB, Becerra SP, Gravel C. Pigment epithelium-derived factor delays the death of photoreceptors in mouse models of inherited retinal degenerations. Neurobiol Dis 1999; 6 523-532.
4. McGee Sanftner LH, Abel H, Hauswirth WW, Flannery JG. Glial cell line derived neurotrophic factor delays photoreceptor degeneration in a transgenic rat model of retinitis pigmentosa. Mol Ther 2001; 4: 622-629.
5. Liang FQ, Aleman TS, Dejneka NS, et al. Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. Mol Ther 2001; 4: 461-472.
6. Rd2/Rd2# model of retinal degeneration. Gene Ther 2003; 10: 523-527.
7. Sauve Y, Girman S, Wang S, Keegan D, Lund R. Preservation of visual responsiveness in the superior colliculus of RCS rats after retinal pigment epithelium cell transplantation. Neuroscience 2002; 114: 389-401.
8. Schraermeyer U, Thumann G, Luther T, et al. Subretinally transplanted embryonic stem cells rescue photoreceptor cells from degeneration in the RCS rats. Cell Transplant 2001; 10: 673-680.
9. Coffey PJ, Girman S, Wang SM, et al. Long-term preservation of cortically dependent visual function in RCS rats by transplantation. Nat Neurosci 2002; 5: 53-56.
10. Lund RD, Adamson P, Sauve Y, et al. Subretinal transplantation of genetically modified human cell lines attenuates loss of visual function in dystrophic rats. Proc Natl Acad Sci U S A 2001; 98: 9942-9947.
11. Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001; 28: 92-95.
12. Ali RR, Sarra GM, Stephens C, et al. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet 2000; 25: 306-310.
13. Bennett J, Maguire AM, Cideciyan AV, et al. Stable transgene expression in rod photoreceptors after recombinant adenoassociated virus-mediated gene transfer to monkey retina. Proc Natl Acad Sci U S A 1999; 96: 9920-9925.
14. Dudus L, Anand V, Acland GM, et al. Persistent transgene product in retina, optic nerve and brain after intraocular injection of rAAV. Vision Res 1999; 39: 2545-2553.
15. Sarra GM, Stephens C, Schlichtenbrede FC, et al. Kinetics of transgene expression in mouse retina following sub-retinal injection of recombinant adeno-associated virus. Vision Res 2002; 42: 541-549
16. Cayouette M, Behn D, Sendtner M, Lachapelle P, Gravel C. Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse. J Neurosci 1998; 18: 9282-9293
17. Travis GH, Sutcliffe JG, Bok D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 1991; 6: 61-70.
18. Reuter JH, Sanyal S. Development and degeneration of retina in rds mutant mice: the electroretinogram. Neurosci Lett 1984; 48: 231-237.
19. Sarra GM, Stephens C, de Alwis M, et al. Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina. Hum Mol Genet 2001; 10: 2353-2361.
20. Zhang X, De Alwis M, Hart SL, et al. High-titer recombinant adeno-associated virus production from replicating amplicons and herpes vectors deleted for glycoprotein H. Hum Gene Ther 1999; 10: 2527-2537.
21. Chang B, Hawes NL, Hurd RE, et al. Retinal degeneration mutants in the mouse. Vision Res 2002; 42: 517-525.
22. Heckenlively JR, Winston JV, Roderick TH. Screening for mouse retinal degenerations. I. Correlation of indirect ophthalmoscopy, electroretinograms, and histology. Doc Ophthalmol 1989; 71: 229-239.
23. Apfelstedt-Sylla E, Theischen M, Ruther K, et al. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol 1995; 79: 28-34.