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 journalArticle

65 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 languageEnglish (US)
Pages (from-to)3394-3407
Number of pages14
JournalVision Research
Volume47
Issue number27
DOIs
StatePublished - Dec 2007

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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  • Cite this

    Abd-El-Barr, M. M., Sykoudis, K., Andrabi, S., Eichers, E. R., Pennesi, M. E., Tan, P. L., Wilson, J. H., Katsanis, N., Lupski, J. R., & Wu, S. M. (2007). Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Research, 47(27), 3394-3407. https://doi.org/10.1016/j.visres.2007.09.016