December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
A Mutation In The Gene For The Presynaptic Cytomatrix Protein Bassoon Prevents The Development Of Photoreceptor Ribbon Synapses
O Dick; S tom Dieck; W Altrock; J Ammermüller; ED Gundelfinger; JH Brandstatter
Author Affiliations & Notes
  • O Dick
    Department of Neuroanatomy Max-Planck-Institute for Brain Research Frankfurt Germany
  • S tom Dieck
    Department of Neurochemistry and Molecular Biology Leibniz Institute for Neurobiology Magdeburg Germany
  • W Altrock
    Department of Neurochemistry and Molecular Biology Leibniz Institute for Neurobiology Magdeburg Germany
  • J Ammermüller
    Institute for Zoology University of Oldenburg Oldenburg Germany
  • ED Gundelfinger
    Department of Neurochemistry and Molecular Biology Leibniz Institute for Neurobiology Magdeburg Germany
  • JH Brandstatter
    Department of Neuroanatomy Max Planck Institute for Brain Research Frankfurt Germany
  • Footnotes
    Commercial Relationships   O. Dick, None; S. tom Dieck, None; W. Altrock, None; J. Ammermüller, None; E.D. Gundelfinger, None; J.H. Brandstatter, None. Grant Identification: Support:SFB269;426;Heisenberg Fellowship to J.H.B.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 2693. doi:
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      O Dick, S tom Dieck, W Altrock, J Ammermüller, ED Gundelfinger, JH Brandstatter; A Mutation In The Gene For The Presynaptic Cytomatrix Protein Bassoon Prevents The Development Of Photoreceptor Ribbon Synapses . Invest. Ophthalmol. Vis. Sci. 2002;43(13):2693.

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Abstract

Abstract: : Purpose:The cytomatrix protein Bassoon is thought to be involved in both the organization and the function of the presynaptic active zone at synapses. In the mammalian retina, Bassoon is expressed at photoreceptor ribbon synapses and at conventional GABAergic and glycinergic synapses (Dick et al., 2001, J. Comp. Neurol. 439: 224-234). To find out more about the function of Bassoon, we studied a mouse mutant that lacks the central exons of the bassoon gene. Methods:Using immunocytochemistry, we labeled certain populations of neurons in retinal sections of adult Bsn mutant and wild-type mice, and examined them by light microscopy. The ultrastructural appearance of photoreceptor synapses of mutant and wild-type retinae was examined at different postnatal stages up to adulthood by electron microscopy. ERG recordings of wild-type and mutant retinae were performed. Results:We found dramatic changes in the dendritic branching patterns of horizontal and rod bipolar cells but not of cone bipolar cells in the Bsn mutant retina. Processes of horizontal cells and dendrites of rod bipolar cells in the mutant retina extended far beyond the outer plexiform layer into the outer nuclear layer. The developmental study showed that in the mutant retina most of the photoreceptor terminals lacked synaptic ribbons at all postnatal stages examined. When ribbons were found, they were detached from the plasma membrane at the synaptic site and floated freely in the cytoplasm of the photoreceptor terminals. Scotopic ERG recordings from dark-adapted mice showed no differences in the a-wave of the ERG between wild-type and mutant mice but a significantly smaller amplitude of the b-wave in the mutant. Conclusion:Bassoon is essential for the development and the structural integrity of the photoreceptor ribbon synapses. Loss of Bassoon prevents photoreceptor ribbon synapse formation, leading to impaired photoreceptor signaling and dramatic structural alterations in the outer retina of the Bsn mutant mouse.

Keywords: 555 retina: distal(photoreceptors, horizontal cells, bipolar cells) • 606 transgenics/knock-outs • 527 protein structure/function 
© 2002, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2015 Association for Research in Vision and Ophthalmology.
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