Direkt zum Inhalt

Owner only: item control page
Min, S. H. ; Molday, L. L. ; Seeliger, M. W. ; Dinculescu, A. ; Timmers, A. M. ; Janssen, A. ; Tonagel, F. ; Tanimoto, N. ; Weber, Bernhard H. F. ; Molday, R. S. ; Hauswirth, W. W.

Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of X-linked juvenile retinoschisis

Min, S. H., Molday, L. L., Seeliger, M. W., Dinculescu, A., Timmers, A. M., Janssen, A., Tonagel, F., Tanimoto, N., Weber, Bernhard H. F. , 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.

Date of publication of this fulltext: 28 Jul 2017 08:49
Article
DOI to cite this document: 10.5283/epub.35918


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.. ...

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.



Involved Institutions


Details

Item typeArticle
Journal or Publication TitleMolecular Therapy
Publisher:ACADEMIC PRESS INC ELSEVIER SCIENCE
Place of Publication:SAN DIEGO
Volume:12
Number of Issue or Book Chapter:4
Page Range:pp. 644-651
Date2005
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1016/j.ymthe.2005.06.002DOI
16027044PubMed ID
KeywordsRECOMBINANT ADENOASSOCIATED VIRUS; MULLER CELLS; WAVE-FORM; PHOTORECEPTOR; EXPRESSION; PROTEIN; DEGENERATION; TRANSDUCTION; RS1H; SPECIFICITY; retinoschisis; knockout mouse; gene therapy; AAV vector; electroretinogram; opsin promoter
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgPartially
URN of the UB Regensburgurn:nbn:de:bvb:355-epub-359186
Item ID35918

Export bibliographical data

Owner only: item control page

nach oben