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

Muhammad M. Abd-El-Barr; Kristen Sykoudis; Sara Andrabi; Erica R. Eichers; Mark E. Pennesi; Perciliz L. Tan; John H. Wilson; Nicholas Katsanis; James R. Lupski; Samuel M. Wu

doi:10.1016/j.visres.2007.09.016

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

Muhammad M. Abd-El-Barr, Kristen Sykoudis, Sara Andrabi, Erica R. Eichers, Mark E. Pennesi, Perciliz L. Tan, John H. Wilson, Nicholas Katsanis, James R. Lupski, Samuel M. Wu

Research output: Contribution to journal › Article › peer-review

90 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	3394-3407
Number of pages	14
Journal	Vision Research
Volume	47
Issue number	27
DOIs	https://doi.org/10.1016/j.visres.2007.09.016
State	Published - Dec 2007
Externally published	Yes

Keywords

Bardet-Biedl syndrome
Electroretinogram (ERG)
Intraflagellar transport
Protein transport
Retina
Retinal degeneration

ASJC Scopus subject areas

Ophthalmology
Sensory Systems

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10.1016/j.visres.2007.09.016

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@article{869f50be01c5444e832453408ee8fc17,

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

abstract = "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.",

keywords = "Bardet-Biedl syndrome, Electroretinogram (ERG), Intraflagellar transport, Protein transport, Retina, Retinal degeneration",

author = "Abd-El-Barr, {Muhammad M.} and Kristen Sykoudis and Sara Andrabi and Eichers, {Erica R.} and Pennesi, {Mark E.} and Tan, {Perciliz L.} and Wilson, {John H.} and Nicholas Katsanis and Lupski, {James R.} and Wu, {Samuel M.}",

note = "Funding Information: We thank Drs E.M. Abd-El-Basset and T.G. Wensel for carefully reading this manuscript and suggestions. We thank Drs R.S. Molday, P. Hargrave and P. Beales for generous contributions of antibodies. We thank Zhuo Yang for help with immunohistochemistry and Ralph Nichols for help with electron microscopy. This work was supported by grants from NIH (EY 04446) to S.M.W., NIH (EY 011731) to J.H.W., NIH DK007696 to K.S., NIH Vision Core (EY 02520), NICHD (HD04260), the Retina Research Foundation (Houston), the International Retinal Research Foundation, Inc., the Foundation Fighting Blindness and Research to Prevent Blindness, Inc. ",

year = "2007",

month = dec,

doi = "10.1016/j.visres.2007.09.016",

language = "English (US)",

volume = "47",

pages = "3394--3407",

journal = "Vision Research",

issn = "0042-6989",

publisher = "Elsevier Limited",

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T1 - Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

AU - Abd-El-Barr, Muhammad M.

AU - Sykoudis, Kristen

AU - Andrabi, Sara

AU - Eichers, Erica R.

AU - Pennesi, Mark E.

AU - Tan, Perciliz L.

AU - Wilson, John H.

AU - Katsanis, Nicholas

AU - Lupski, James R.

AU - Wu, Samuel M.

N1 - Funding Information: We thank Drs E.M. Abd-El-Basset and T.G. Wensel for carefully reading this manuscript and suggestions. We thank Drs R.S. Molday, P. Hargrave and P. Beales for generous contributions of antibodies. We thank Zhuo Yang for help with immunohistochemistry and Ralph Nichols for help with electron microscopy. This work was supported by grants from NIH (EY 04446) to S.M.W., NIH (EY 011731) to J.H.W., NIH DK007696 to K.S., NIH Vision Core (EY 02520), NICHD (HD04260), the Retina Research Foundation (Houston), the International Retinal Research Foundation, Inc., the Foundation Fighting Blindness and Research to Prevent Blindness, Inc.

PY - 2007/12

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N2 - 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.

AB - 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.

KW - Bardet-Biedl syndrome

KW - Electroretinogram (ERG)

KW - Intraflagellar transport

KW - Protein transport

KW - Retina

KW - Retinal degeneration

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

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Keywords

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