Document Detail


Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function.
MedLine Citation:
PMID:  20628362     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital absence of cone photoreceptor function is associated with strongly impaired daylight vision and loss of color discrimination in human achromatopsia. Here, we introduce viral gene replacement therapy as a potential treatment for this disease in the CNGA3(-/-) mouse model. We show that such therapy can restore cone-specific visual processing in the central nervous system even if cone photoreceptors had been nonfunctional from birth. The restoration of cone vision was assessed at different stages along the visual pathway. Treated CNGA3(-/-) mice were able to generate cone photoreceptor responses and to transfer these signals to bipolar cells. In support, we found morphologically that treated cones expressed regular cyclic nucleotide-gated (CNG) channel complexes and opsins in outer segments, which previously they did not. Moreover, expression of CNGA3 normalized cyclic guanosine monophosphate (cGMP) levels in cones, delayed cone cell death and reduced the inflammatory response of Müller glia cells that is typical of retinal degenerations. Furthermore, ganglion cells from treated, but not from untreated, CNGA3(-/-) mice displayed cone-driven, light-evoked, spiking activity, indicating that signals generated in the outer retina are transmitted to the brain. Finally, we demonstrate that this newly acquired sensory information was translated into cone-mediated, vision-guided behavior.
Authors:
Stylianos Michalakis; Regine Mühlfriedel; Naoyuki Tanimoto; Vidhyasankar Krishnamoorthy; Susanne Koch; M Dominik Fischer; Elvir Becirovic; Lin Bai; Gesine Huber; Susanne C Beck; Edda Fahl; Hildegard Büning; François Paquet-Durand; Xiangang Zong; Tim Gollisch; Martin Biel; Mathias W Seeliger
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-07-13
Journal Detail:
Title:  Molecular therapy : the journal of the American Society of Gene Therapy     Volume:  18     ISSN:  1525-0024     ISO Abbreviation:  Mol. Ther.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-01     Completed Date:  2011-04-18     Revised Date:  2011-12-21    
Medline Journal Info:
Nlm Unique ID:  100890581     Medline TA:  Mol Ther     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2057-63     Citation Subset:  IM    
Affiliation:
Center for Integrated Protein Science Munich (CIPSM), Department of Pharmacy-Center for Drug Research, Ludwig-Maximilians-Universität München, Munich, Germany.
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MeSH Terms
Descriptor/Qualifier:
Animals
Cloning, Molecular
Congenital Abnormalities / genetics,  therapy*
Cyclic Nucleotide-Gated Cation Channels / genetics*
Dependovirus / genetics
Disease Models, Animal
Gene Therapy*
Genetic Vectors / genetics
Humans
Mice
Mice, Knockout
Retinal Cone Photoreceptor Cells / metabolism*
Vision, Ocular / genetics
Chemical
Reg. No./Substance:
0/Cyclic Nucleotide-Gated Cation Channels

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


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