Document Detail


Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.
MedLine Citation:
PMID:  21444805     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Patients with Bardet-Biedl syndrome (BBS) experience severe retinal degeneration as a result of impaired photoreceptor transport processes that are not yet fully understood. To date, there is no effective treatment for BBS-associated retinal degeneration, and blindness is imminent by the second decade of life. Here we report the development of an adeno-associated viral (AAV) vector that rescues rhodopsin mislocalization, maintains nearly normal-appearing rod outer segments, and prevents photoreceptor death in the Bbs4-null mouse model. Analysis of the electroretinogram a-wave indicates that rescued rod cells are functionally indistinguishable from wild-type rods. These results demonstrate that gene therapy can prevent retinal degeneration in a mammalian BBS model.
Authors:
David L Simons; Sanford L Boye; William W Hauswirth; Samuel M Wu
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2011-03-28
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  108     ISSN:  1091-6490     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-04-13     Completed Date:  2011-06-27     Revised Date:  2014-09-15    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  6276-81     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Animals
Apoptosis*
Bardet-Biedl Syndrome / complications,  therapy*
Disease Models, Animal
Genetic Therapy*
Genetic Vectors
Mice
Mice, Knockout
Microtubule-Associated Proteins / genetics*
Photoreceptor Cells, Vertebrate / pathology,  physiology*
Retina / pathology,  physiopathology
Retinal Degeneration / etiology,  pathology,  prevention & control*
Transgenes
Grant Support
ID/Acronym/Agency:
EY019908/EY/NEI NIH HHS; EY02520/EY/NEI NIH HHS; EY04446/EY/NEI NIH HHS; EY08571/EY/NEI NIH HHS; EY13729/EY/NEI NIH HHS; P30 EY021721/EY/NEI NIH HHS; R01 EY004446/EY/NEI NIH HHS; R01 EY019908/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/BBS4 protein, mouse; 0/Microtubule-Associated Proteins
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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