Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/-mouse

Gene Therapy

Volumn 21, Issue 6, 2014, Pages 585-592

  Byrne, L C ^a,b,c   Ozturk B E ^a   Lee, T ^a   Fortuny, C ^a,b   Visel, M ^a   Dalkara, D ^a,b,c,d   Schaffer, D V ^b,c   Flannery, J G ^a,b  

^a University of California Berkeley   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c University of California at Berkeley   (United States)

^d INSTITUT DE LA VISION   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PARVOVIRUS VECTOR; RETINOSCHISIN; CELL ADHESION MOLECULE; EYE PROTEIN; GREEN FLUORESCENT PROTEIN; RS1 PROTEIN, HUMAN; RS1H PROTEIN, MOUSE;

AGED; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL TYPE; CONTROLLED STUDY; DRUG EFFICACY; GENE; GENE MUTATION; GENE TARGETING; MOUSE; MUELLER CELL; NONHUMAN; PHOTORECEPTOR; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN TRANSPORT; RETINA CELL; RETINOSCHISIS; RS1 GENE; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; EXPRESSION VECTOR; GENE THERAPY; GLIA CELL; IN VIVO STUDY; PHOTORECEPTOR INNER SEGMENT; PROTEIN EXPRESSION; RETINA; RETINA AMACRINE CELL; RETINA NERVE CELL; VITREOUS BODY; AGING; ANIMAL; C57BL MOUSE; CYTOLOGY; DISEASE MODEL; ELECTRORETINOGRAPHY; GENE VECTOR; GENETICS; HUMAN; METABOLISM; MUTANT MOUSE STRAIN; ORGAN CULTURE TECHNIQUE; PHYSIOLOGY; PROCEDURES;

AGING; ANIMALS; CELL ADHESION MOLECULES; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; EYE PROTEINS; GENETIC THERAPY; GENETIC VECTORS; GREEN FLUORESCENT PROTEINS; HUMANS; MICE, INBRED C57BL; MICE, MUTANT STRAINS; ORGAN CULTURE TECHNIQUES; PHOTORECEPTOR CELLS, VERTEBRATE; RETINA; RETINOSCHISIS;

EID: 84902084845     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/gt.2014.31     Document Type: Article

References (26)

1. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A et al.Positional cloning of the gene associated with X-linked juvenile retinoschisis. NatGenet 1997; 17: 164-170.
2. George ND, Yates JR, Moore AT. X linked retinoschisis. Br J Opthalmol 1995; 79:697-702.
3. Sikkink SK, Biswas S, Parry NRA, Stanga PE, Trump D. X-linked retinoschisis:an update. J Med. Genet 2007; 44: 225-232.
4. Forsius HH, Krause UU, Helve JJ, Vuopala VV, Mustonen EE, Vainio-Mattila BB et al.Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol 1973; 8:385-393.
5. Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. Retinoschisin is aperipheral membrane protein with affinity for anionic phospholipids and affectedby divalent cations. Invest Ophthalmol Vis Sci 2007; 48: 991-1000.
6. Molday LL, Wu WWH, Molday RS. Retinoschisin (RS1), the protein encoded by theX-linked retinoschisis gene, is anchored to the surface of retinal photoreceptorand bipolar cells through its interactions with a Na/K ATPase-SARM1 complex.J Biol Chem. 2007; 282: 32792-32801.
7. Weber BHF, Schrewe H, Molday LL, Gehrig A, White KL, Seeliger MW et al.Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests arole of retinoschisin in retinal cell layer organization and synaptic structure.Proc Natl Acad Sci USA 2002; 99: 6222-6227.
8. Gehrig A, Janssen A, Horling F, Grimm C, Weber BHF. The role of caspases inphotoreceptor cell death of the retinoschisin-deficient mouse. Cytogenet GenomeRes. 2006; 115: 35-44.
9. Dalkara D, Byrne LC, Klimczak RR, Visel M, Yin L, Merigan WH et al. In vivo-directedevolution of a new adeno-associated virus for Ther.apeutic outer retinal genedelivery from the vitreous. Sci Transl Med. 2013; 5: 189ra76.
10. Park TK, Wu Z, Kjellstrom S, Zeng Y, Bush RA, Sieving PA et al. Intravitreal deliveryof AAV8 retinoschisin Res.ults in cell type-specific gene expRes.sion and retinalRes.cue in the Rs1-KO mouse. Gene Ther.apy 2009; 16: 916-926.
11. Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush RA, Sieving PA. Synapticpathology in retinoschisis knockout (Rs1-/y) mouse retina and modification byrAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci 2008; 49: 3677-3686.
12. Janssen A, Min SH, Molday LL, Tanimoto N, Seeliger MW, Hauswirth WW et al. Effectof late-stage Ther.apy on disease progRes.sion in AAV-Med.iated Res.cue of photoreceptorcells in the retinoschisin-deficient mouse. Mol Ther. 2008; 16: 1010-1017.
13. Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. Retinoschisin gene Ther.apyand natural history in the Rs1h-KO mouse: long-term Res.cue from retinaldegeneration. Invest Ophthalmol Vis Sci 2007; 48: 3837-3845.
14. Molday LL, Min S-H, Seeliger MW, Wu WWH, Dinculescu A, Timmers AM et al.Disease mechanisms and gene Ther.apy in a mouse model for X-linkedretinoschisis. Adv Exp Med. Biol 2006; 572: 283-289.
15. Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A et al.Prolonged recovery of retinal structure/function after gene Ther.apy in anRs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol Ther. 2005; 12:644-651.
16. Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E et al.RS-1 Gene delivery to an adult Rs1h knockout mouse model Res.toRes. ERG b-wavewith Rev.ersal of the electronegative waveform of X-linked retinoschisis. InvestOphthalmol Vis Sci 2004; 45: 3279-3285.
17. Klimczak RR, Koerber JT, Dalkara D, Flannery JG, Schaffer DV. A novel adenoassociatedviral variant for efficient and selective intravitreal transduction of ratMüller cells. PLoS One 2009; 4: e7467.
18. Koerber JT, Klimczak R, Jang J-H, Dalkara D, Flannery JG, Schaffer DV. Molecularevolution of adeno-associated virus for enhanced glial gene delivery. Mol Ther.2009; 17: 2088-2095.
19. Reid SNM, Yamashita C, Farber DB. Retinoschisin, a photoreceptor- secretedprotein, and its interaction with bipolar and muller cells. J NEur.osci 2003; 23:6030-6040.
20. Reid SNM, Farber DB. Glial transcytosis of a photoreceptor-secreted signalingprotein, retinoschisin. Glia 2005; 49: 397-406.
21. Friedrich U, Stöhr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T et al.The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, theprotein involved in the pathogenesis of X-linked juvenile retinoschisis. Hum MolGenet 2011; 20: 1132-1142.
22. Wetzel RK, Arystarkhova E, Sweadner KJ. Cellular and subcellular specificationof Na, K-ATPase alpha and beta isoforms in the postnatal development ofmouse retina. J NEur.osci 1999; 19: 9878-9889.
23. Takada Y, Fariss RN, Tanikawa A, Zeng Y, Carper D, Bush R et al. A retinalnEur.onal developmental wave of retinoschisin expRes.sion begins in ganglioncells during layer formation. Invest Ophthalmol Vis Sci 2004; 45:3302-3312.
24. Stieger K, Colle M-A, Dubreil L, Mendes-Madeira A, Weber M, Le MEur. G et al.Subretinal delivery of recombinant AAV serotype 8 vector in dogs Res.ults in genetransfer to nEur.ons in the brain. Mol Ther. 2008; 16: 916-923.
25. Grieger JC, Choi VW, Samulski RJ. Production and characterization of adenoassociatedviral vectors. Nat Protoc 2006; 1: 1412-1428.
26. Aurnhammer C, Haase M, MueTher. N, Hausl M, Rauschhuber C, Huber I et al.Universal real-time PCR for the detection and quantification of adeno-associatedvirus serotype 2-derived inverted terminal repeat sequences. Hum Gene Ther.Methods 2012; 23: 18-28.