Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome

Bardet–Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired intraflagellar transport (IFT). In this study, we study the Bbs4-nu...

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Bibliographic Details
Published in:Vision research (Oxford) 2007-12, Vol.47 (27), p.3394-3407
Main Authors: Abd-El-Barr, Muhammad M., Sykoudis, Kristen, Andrabi, Sara, Eichers, Erica R., Pennesi, Mark E., Tan, Perciliz L., Wilson, John H., Katsanis, Nicholas, Lupski, James R., Wu, Samuel M.
Format: Article
Language:English
Subjects:
Animals
Apoptosis
Bardet-Biedl Syndrome - metabolism
Bardet-Biedl Syndrome - pathology
Bardet-Biedl Syndrome - physiopathology
Bardet–Biedl syndrome
Biological and medical sciences
Carrier Proteins - metabolism
Electroretinogram (ERG)
Electroretinography
Eye and associated structures. Visual pathways and centers. Vision
Fundamental and applied biological sciences. Psychology
Immunohistochemistry
Intraflagellar transport
Male
Medical sciences
Metabolic diseases
Mice
Mice, Knockout
Microscopy, Electron
Microtubule-Associated Proteins - analysis
Microtubule-Associated Proteins - genetics
Microtubule-Associated Proteins - metabolism
Models, Animal
Obesity
Ophthalmology
Photoreceptor Cells - chemistry
Photoreceptor Cells - metabolism
Photoreceptor Cells - ultrastructure
Protein Transport
Retina
Retinal degeneration
Retinopathies
Rod Opsins - metabolism
Synaptic Transmission
Vertebrates: nervous system and sense organs
Vision, Ocular
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Summary:Bardet–Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired intraflagellar transport (IFT). In this study, we study the Bbs4-null mouse and investigate photoreceptor structure and function after loss of this gene. We find that Bbs4-null mice have defects in the transport of phototransduction proteins from the inner segments to the outer segments, before signs of cell death. Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors.
ISSN:0042-6989
1878-5646
DOI:10.1016/j.visres.2007.09.016