Lessons from retinal dystrophins
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1
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Translational Medicine and Neurogenetics, France
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2
Institut de la Vision, UMR S 968 Inserm / Université Pierre et Marie Curie UMR CNRS 7210, Thérapeutique, France
Problem Statement: Dystrophins are expressed not only in muscles, but also in many parts of the central nervous system, including the cerebellum, hippocampus and retina. This leads in many Duchenne patients to cognitive deficits, as well as an abnormal electroretinogram, close to the one found in night-blind patients. This latter element is puzzling, as patients do not seem to suffer from visual deficits. This has attracted attention to retinal dystrophins, which are expressed in Müller glial cells (Dp71), notably in the processes surrounding blood vessels, and in photoreceptors and possibly in bipolar and/or amacrine cells (Dp427, Dp260 and Dp140). We have examined how the absence of these proteins lead to an abnormal electroretinogram, and if Dp71 absence impacted the bloor-retinal-barrier integrity.
Approach: Comparison of the mdx3Cv (which lacks all dystrophins) and/or Dp71-null mice to WT was performed by immunohistochemistry and confocal microscopy, as well as by electron microscopy.
Results: Absence of Dp71 alters the blood-retinal barrier integrity and leads to an abnormal development of retinal vessels. When longer dystrophins are missing (mdx3Cv mouse), the morphology of the synapse between photoreceptors and bipolar cells is profoundly altered. In addition, the distribution of proteins involved in calcium signaling in bipolar cells is modified in mdx3Cv but not Dp71-null retinas.
Conclusion: Together, these results stress the fragility of Duchenne retina in absence of Dp71, and open new perspectives to understand not only the abnormal electroretinography in Duchenne patients, but also possibly their cognitive deficits.
Keywords:
synapse,
Calcium Signaling,
Electroretinography,
glial cells,
vasculature
Conference:
4th Conference of the Mediterrarnean Neuroscience Society, Istanbul, Türkiye, 30 Sep - 3 Oct, 2012.
Presentation Type:
Symposium
Topic:
Abstracts
Citation:
Roux
MJ and
Rendon
A
(2013). Lessons from retinal dystrophins.
Conference Abstract:
4th Conference of the Mediterrarnean Neuroscience Society.
doi: 10.3389/conf.fnhum.2013.210.00062
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Received:
28 Jan 2013;
Published Online:
11 Apr 2013.
*
Correspondence:
Dr. Michel J Roux, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Translational Medicine and Neurogenetics, ILLKIRCH, 67404, France, mjroux@igbmc.fr