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Visual impairment in the absence of dystroglycan
Journal article   Open access   Peer reviewed

Visual impairment in the absence of dystroglycan

Jakob S Satz, Alisdair R Philp, Huy Nguyen, Hajime Kusano, Jane Lee, Rolf Turk, Megan J Riker, Jasmine Hernández, Robert M Weiss, Michael G Anderson, …
The Journal of neuroscience, Vol.29(42), pp.13136-13146
10/21/2009
DOI: 10.1523/JNEUROSCI.0474-09.2009
PMCID: PMC2965532
PMID: 19846701
url
https://doi.org/10.1523/JNEUROSCI.0474-09.2009View
Published (Version of record) Open Access

Abstract

Ocular involvement in muscular dystrophy ranges from structural defects to abnormal electroretinograms. While the mechanisms underlying the abnormal retinal physiology in patients are not understood, it is thought that alpha-dystroglycan extracellular interactions are critical for normal visual function. Here we show that beta-dystroglycan anchors dystrophin and the inward rectifying K(+) channel Kir4.1 at glial endfeet and that disruption of dystrophin and potassium channel clustering in dystroglycan mutant mice is associated with an attenuation of the electroretinogram b-wave. Glial-specific inactivation of dystroglycan or deletion of the cytoplasmic domain of beta-dystroglycan was sufficient to attenuate the electroretinogram b-wave. Unexpectedly, deletion of the beta-dystroglycan cytoplasmic domain did not disrupt the laminar structure of the retina. In contrast to the role of alpha-dystroglycan extracellular interactions during early development of the CNS, beta-dystroglycan intracellular interactions are important for visual function but not the laminar development of the retina.
Glial Fibrillary Acidic Protein - genetics Dystroglycans - deficiency Electroretinography - methods Nestin Retina - metabolism Glial Fibrillary Acidic Protein - metabolism Vision Disorders - physiopathology Intermediate Filament Proteins - genetics Visual Fields - genetics Dystrophin - metabolism Maze Learning - physiology Gene Expression Regulation - genetics Mice, Transgenic Mutation - genetics Nerve Tissue Proteins - genetics Laminin - genetics Nerve Tissue Proteins - metabolism Animals Vision Disorders - genetics Photic Stimulation - methods Mice Laminin - metabolism Intermediate Filament Proteins - metabolism Potassium Channels, Inwardly Rectifying - metabolism Retina - pathology

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