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

被引：77

作者：

Abd-El-Barr, Muhammad M. ^{[1
,2
]}

Sykoudis, Kristen ^{[3
]}

Andrabi, Sara ^{[2
]}

Eichers, Erica R. ^{[4
]}

Pennesi, Mark E. ^{[1
,2
]}

Tan, Perciliz L. ^{[5
]}

Wilson, John H. ^{[3
]}

Katsanis, Nicholas ^{[5
]}

Lupski, James R. ^{[4
]}

Wu, Samuel M. ^{[1
,2
]}

机构：

[1] Baylor Coll Med, Cullen Eye Inst, Dept Neurosci, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Biochem & Mol Biol, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[5] Johns Hopkins Univ, Nathans McKusick Inst Genet Med, Baltimore, MD 21205 USA

来源：

VISION RESEARCH | 2007年 / 47卷 / 27期

关键词：

Bardet-Biedl syndrome; retina; retinal degeneration; electroretinogram (ERG); protein transport; intraflagellar transport;

D O I：

10.1016/j.visres.2007.09.016

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (C) 2007 Elsevier Ltd. All rights reserved.

引用

页码：3394 / 3407

页数：14

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