| Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model. | |
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MedLine Citation:
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PMID: 21444805 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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David L Simons; Sanford L Boye; William W Hauswirth; Samuel M Wu |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2011-03-28 |
Journal Detail:
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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:
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Created Date: 2011-04-13 Completed Date: 2011-06-27 Revised Date: 2012-05-25 |
Medline Journal Info:
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Nlm Unique ID: 7505876 Medline TA: Proc Natl Acad Sci U S A Country: United States |
Other Details:
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Languages: eng Pagination: 6276-81 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA. dlsimons@bcm.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Apoptosis* Bardet-Biedl Syndrome / complications, therapy* Disease Models, Animal Gene 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:
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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 EY002520-33/EY/NEI NIH HHS; P30 EY021721/EY/NEI NIH HHS; R01 EY019908-03/EY/NEI NIH HHS |
| Chemical | |
Reg. No./Substance:
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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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