Document Detail


Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency.
MedLine Citation:
PMID:  20237510     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
To test whether fast-acting, self-complimentary (sc), adeno-associated virus-mediated RPE65 expression prevents cone degeneration and/or restores cone function, we studied two mouse lines: the Rpe65-deficient rd12 mouse and the Rpe65-deficient, rhodopsin null ('that is, cone function-only') Rpe65(-/-)::Rho(-/-) mouse. scAAV5 expressing RPE65 was injected subretinally into one eye of rd12 and Rpe65(-/-)::Rho(-/-) mice at postnatal day 14 (P14). Contralateral rd12 eyes were injected later, at P35. Rd12 behavioral testing revealed that rod vision loss was prevented with either P14 or P35 treatment, whereas cone vision was only detected after P14 treatment. Consistent with this observation, P35 treatment only restored rod electroretinogram (ERG) signals, a result likely due to reduced cone densities at this time point. For Rpe65(-/-)::Rho(-/-) mice in which there is no confounding rod contribution to the ERG signal, cone cells and cone-mediated ERGs were also maintained with treatment at P14. This work establishes that a self-complimentary AAV5 vector can restore substantial visual function in two genetically distinct models of Rpe65 deficiency within 4 days of treatment. In addition, this therapy prevents cone degeneration but only if administered before extensive cone degeneration, thus supporting continuation of current Leber's congenital amaurosis-2 clinical trials with an added emphasis on cone subtype analysis and early intervention.
Authors:
J Pang; S E Boye; B Lei; S L Boye; D Everhart; R Ryals; Y Umino; B Rohrer; J Alexander; J Li; X Dai; Q Li; B Chang; R Barlow; W W Hauswirth
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.     Date:  2010-03-18
Journal Detail:
Title:  Gene therapy     Volume:  17     ISSN:  1476-5462     ISO Abbreviation:  Gene Ther.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-08     Completed Date:  2010-09-27     Revised Date:  2012-05-28    
Medline Journal Info:
Nlm Unique ID:  9421525     Medline TA:  Gene Ther     Country:  England    
Other Details:
Languages:  eng     Pagination:  815-26     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology and Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, USA. jpang@ufl.edu
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MeSH Terms
Descriptor/Qualifier:
Animals
Carrier Proteins / physiology*
Dependovirus / genetics*
Disease Models, Animal
Eye Proteins / physiology*
Gene Therapy*
Genetic Vectors
Mice
Optic Atrophy, Hereditary, Leber / therapy*
Retinal Cone Photoreceptor Cells / physiology*
Retinal Degeneration / genetics*,  prevention & control*
Grant Support
ID/Acronym/Agency:
EY00067/EY/NEI NIH HHS; EY014046/EY/NEI NIH HHS; EY017246/EY/NEI NIH HHS; EY018331/EY/NEI NIH HHS; EY06360/EY/NEI NIH HHS; EY07758/EY/NEI NIH HHS; EY08571/EY/NEI NIH HHS; EY11123/EY/NEI NIH HHS; EY13729/EY/NEI NIH HHS; F32 EY017246-03/EY/NEI NIH HHS; NS36302/NS/NINDS NIH HHS; P30 EY008571-20S1/EY/NEI NIH HHS; R01 EY007758-20/EY/NEI NIH HHS; R01 EY011123-15/EY/NEI NIH HHS; R01 EY019943-02/EY/NEI NIH HHS; R21 EY018331-02/EY/NEI NIH HHS; U10 EY013729-05/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/Eye Proteins; EC 3.1.1.64/retinoid isomerohydrolase
Comments/Corrections

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