AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEβ mutation

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 10, 2008, Pages 4278-4283

  Pang, Ji Jing ^a   Boye, Sanford L ^a   Kumar, Ashok ^a   Dinculescu, Astra ^a   Deng, Wentao ^a   Li, Jie ^a   Li, Qiuhong ^a   Rani, Asha ^a   Foster, Thomas C ^a   Chang, Bo ^b   Hawes, Norman L ^b   Boatright, Jeffrey H ^c   Hauswirth, William W ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b JACKSON LABORATORY   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGENTS ACTING ON THE EYE; PARVOVIRUS VECTOR; PHOSPHODIESTERASE; PHOSPHODIESTERASE 6B; UNCLASSIFIED DRUG; PDE6B PROTEIN, MOUSE; PHOSPHODIESTERASE 6;

ANIMAL EXPERIMENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; B WAVE; BEHAVIOR THERAPY; CONTROLLED STUDY; DARKNESS; ELECTRON MICROSCOPY; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; GENE MUTATION; GENE THERAPY; LIGHT; MAZE TEST; MICROSCOPY; MOUSE; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA; RETINA DEGENERATION; RETINA ROD; ADENO ASSOCIATED VIRUS; ANIMAL; C57BL MOUSE; CONGENIC STRAIN; DISEASE MODEL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PREGNANCY; PSYCHOMOTOR PERFORMANCE; RECESSIVE GENE; RETINITIS PIGMENTOSA; WESTERN BLOTTING;

ANIMALS; ANIMALS, CONGENIC; ANIMALS, NEWBORN; BLOTTING, WESTERN; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENE THERAPY; GENES, RECESSIVE; MICE; MICE, INBRED C57BL; MUTATION; PREGNANCY; PSYCHOMOTOR PERFORMANCE; RETINA; RETINITIS PIGMENTOSA;

EID: 53449093170     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-1622     Document Type: Article

References (31)

1. Keeler C. Retinal degeneration in the mouse is rodless retina. J Hered. 1966;57:47-50.
2. Keeler CE. The inheritance of a retinal abnormality in white mice. Proc Natl Acad Sci U S A. 1924;10:329-333.
3. Pittler SJ, Baehr W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sci U S A. 1991;88:8322-8326. (Pubitemid 21915348)
4. Bowes C, Li T, Frankel WN, et al. Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. Proc Natl Acad Sci U S A. 1993;90:2955-2959. (Pubitemid 23113536)
5. Farber DB, Lolley RN. Enzymatic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina. J Cyclic Nucleotide Res. 1976;2:139-148.
6. Danciger M, Blaney J, Gao YQ, et al. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics. 1995;30:1-7.
7. McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A. 1995;92:3249-3253.
8. Caley DW, Johnson C, Liebelt RA. The postnatal development of the retina in the normal and rodless CBA mouse: a light and electron microscopic study. Am J Anat. 1972;133:179-212.
9. Farber DB, Lolley RN. Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina. Science. 1974;186:449-451.
10. LaVail MM, Sidman RL. C57BL-6J mice with inherited retinal degeneration. Arch Ophthalmol. 1974;91:394-400.
11. LaVail MM, Sidman RL. C57BL-6J mice with inherited retinal degeneration. Arch Ophthalmol. 1974;91:394-400.
12. LaVail MM, Matthes MT, Yasumura D, Steinberg RH. Variability in rate of cone degeneration in the retinal degeneration (rd/rd) mouse. Exp Eye Res. 1997;65:45-50. (Pubitemid 27322036)
13. Bennett J, Tanabe T, Sun D, et al. Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nat Med. 1996;2:649-654. (Pubitemid 26191951)
14. Jomary C, Vincent KA, Grist J, Neal MJ, Jones SE. Rescue of photoreceptor function by AAV-mediated gene transfer in a mouse model of inherited retinal degeneration. Gene Ther. 1997;4:683-690. (Pubitemid 27343130)
15. Takahashi M, Miyoshi H, Verma IM, Gage FH. Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer. J Virol. 1999;73:7812-7816. (Pubitemid 29383266)
16. Kumar-Singh R, Farber DB. Encapsidated adenovirus mini-chromosome- mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration. Hum Mol Genet. 1998;7:1893-1900. (Pubitemid 28499420)
17. Dejneka NS, Surace EM, Aleman TS, et al. In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther. 2004;9:182-188.
18. Chang B, Hawes NL, Hurd RE, Davisson MT, Nusinowitz S, Heckenlively JR. Retinal degeneration mutants in the mouse. Vision Res. 2002;42:517-525.
19. Chang B, Hawes NL, Pardue MT, et al. Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res. 2007;47:624-633. (Pubitemid 46240231)
20. Gargini C, Terzibasi E, Mazzoni F, Strettoi E. Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: a morphological and ERG study. J Comp Neurol. 2006;500:222-238. (Pubitemid 44937119)
21. Boatright JH, Moring AG, McElroy C, et al. Tool from ancient pharmacopoeia prevents vision loss. Mol Vis. 2006;12:1706-1714. (Pubitemid 46075838)
22. Komeima K, Rogers BS, Campochiaro PA. Antioxidants slow photoreceptor cell death in mouse models of retinitis pigmentosa. J Cell Physiol. 2007;213:809-815. (Pubitemid 350058275)
23. Otani A, Dorrell MI, Kinder K, et al. Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells. J Clin Invest. 2004;114:765-774. (Pubitemid 39578735)
24. Alexander JJ, Umino Y, Everhart D, et al. Restoration of cone vision in a mouse model of achromatopsia. Nat Med. 2007;13:685-687. (Pubitemid 46889758)
25. Min SH, Molday LL, Seeliger MW, et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of X-linked juvenile retinoschisis. Mol Ther. 2005;12:644-651.
26. Pang JJ, Chang B, Kumar A, et al. Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol Ther. 2006;13:565-572. (Pubitemid 43257624)
27. Pang JJ, Lauramore A, Deng WT, et al. Comparative analysis of in vivo and in vitro AAV vector transduction in the neonatal mouse retina: effects of serotype and site of administration. Vision Res. 2008;48:377-385. (Pubitemid 351179516)
28. Haire SE, Pang J, Boye SL, et al. Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1. Invest Ophthalmol Vis Sci. 2006;47:3745-3753. (Pubitemid 46044286)
29. Pang JJ, Chang B, Hawes NL, et al. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis. 2005;11:152-162. (Pubitemid 41358297)
30. Gu D, Beltran WA, Li Z, Acland GM, Aguirre GD. Clinical light exposure, photoreceptor degeneration, and AP-1 activation: a cell death or cell survival signal in the rhodopsin mutant retina? Invest Ophthalmol Vis Sci. 2007;48:4907-4918. (Pubitemid 351260897)
31. White DA, Fritz JJ, Hauswirth WW, Kaushal S, Lewin AS. Increased sensitivity to light-induced damage in a mouse model of autosomal dominant retinal disease. Invest Ophthalmol Vis Sci. 2007;48:1942-1951. (Pubitemid 351261258)