Min, Seok H. and Molday, L. L. and Seeliger, M. W. and Dinculescu, A. and Timmers, A. M. and Janssen, Andreas and Tonagel, F. and Tanimoto, N. and Weber, Bernhard H. F. and Molday, R. S. and Hauswirth, W. W. (2005) Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of X-linked juvenile retinoschisis. MOLECULAR THERAPY, 12 (4). pp. 644-651. ISSN 1525-0016,
Full text not available from this repository. (Request a copy)Abstract
X-linked juvenile retinoschisis (RS) is a common cause of juvenile macular degeneration in males. RS is characterized by cystic spoke-wheel-like maculopathy, peripheral schisis, and a negative (b-wave more reduced than a-wave) electroretinogram (ERG). These symptoms are due to mutations in the RS1 gene in Xp22.2 leading to loss of functional protein. No medical treatment is currently available.. We show here that in an Rs1h-deficient mouse model of human RS, delivery of the human RS1 cDNA with an AAV vector restored expression of retinoschisin to both photoreceptors and the inner retina essentially identical to that seen in wild-type mice. More importantly, unlike an earlier study with a different AAV vector and promoter, this work shows for the first time that therapeutic gene delivery using a highly specific AAV5-opsin promoter vector leads to progressive and significant improvement in both retinal function (ERG) and morphology, with preservation of photoreceptor cells that, without treatment, progressively degenerate.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RECOMBINANT ADENOASSOCIATED VIRUS; MULLER CELLS; WAVE-FORM; PHOTORECEPTOR; EXPRESSION; PROTEIN; DEGENERATION; TRANSDUCTION; RS1H; SPECIFICITY; retinoschisis; knockout mouse; gene therapy; AAV vector; electroretinogram; opsin promoter |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 26 Apr 2021 12:14 |
| Last Modified: | 26 Apr 2021 12:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/35604 |
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