| Title | Visual impairment in the absence of dystroglycan. | | Author(s) | Satz JS, Philp AR, Nguyen H, Kusano H, Lee J, Turk R, Riker MJ, Hernández J, Weiss RM, Anderson MG, Mullins RF, Moore SA, Stone EM, Campbell KP | | Institution | Department of Molecular Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA. | | Source | J Neurosci 2009 Oct 21; 29(42):13136-46. | | MeSH | Animals
Dystroglycans
Dystrophin
Electroretinography
Gene Expression Regulation
Glial Fibrillary Acidic Protein
Intermediate Filament Proteins
Laminin
Maze Learning
Mice
Mice, Transgenic
Mutation
Nerve Tissue Proteins
Photic Stimulation
Potassium Channels, Inwardly Rectifying
Retina
Vision Disorders
Visual Fields
| | 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. | | Language | eng | | Pub Type(s) | Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
| | PubMed ID | 19846701 |
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