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-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.
Abd-El-Barr
Muhammad M
MM
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Sykoudis
Kristen
K
Andrabi
Sara
S
Eichers
Erica R
ER
Pennesi
Mark E
ME
Tan
Perciliz L
PL
Wilson
John H
JH
Katsanis
Nicholas
N
Lupski
James R
JR
Wu
Samuel M
SM
D000818:Animals; D017209:Apoptosis; D020788:Bardet-Biedl Syndrome / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D002352:Carrier Proteins / Q000378:metabolism; D004596:Electroretinography; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008854:Microscopy, Electron; D008869:Microtubule-Associated Proteins / Q000032:analysis / Q000235:genetics / Q000378:metabolism*; D023421:Models, Animal; D010786:Photoreceptor Cells / Q000737:chemistry / Q000378:metabolism* / Q000648:ultrastructure; D021381:Protein Transport; D017299:Rod Opsins / Q000378:metabolism; D009435:Synaptic Transmission; D014785:Vision, Ocular
C506280:Bbs1 protein, mouse; D002352:Carrier Proteins; D008869:Microtubule-Associated Proteins; D017299:Rod Opsins