Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Cited Authors
- Abd-El-Barr, MM; Sykoudis, K; Andrabi, S; Eichers, ER; Pennesi, ME; Tan, PL; Wilson, JH; Katsanis, N; Lupski, JR; Wu, SM
Published Date
- December 2007
Published In
Volume / Issue
- 47 / 27
Start / End Page
- 3394 - 3407
PubMed ID
- 18022666
Pubmed Central ID
- PMC2661240
International Standard Serial Number (ISSN)
- 0042-6989
Digital Object Identifier (DOI)
- 10.1016/j.visres.2007.09.016
Language
- eng
Conference Location
- England