Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
doi: 10.1038/nature00837
pmid: 12140558
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
Muscle eye brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with associated, similar brain malformations. The FCMD gene, fukutin, shares some homology with fringe-like glycosyltransferases, and the MEB gene, POMGnT1, seems to be a new glycosyltransferase. Here we show, in both MEB and FCMD patients, that alpha-dystroglycan is expressed at the muscle membrane, but similar hypoglycosylation in the diseases directly abolishes binding activity of dystroglycan for the ligands laminin, neurexin and agrin. We show that this post-translational biochemical and functional disruption of alpha-dystroglycan is recapitulated in the muscle and central nervous system of mutant myodystrophy (myd) mice. We demonstrate that myd mice have abnormal neuronal migration in cerebral cortex, cerebellum and hippocampus, and show disruption of the basal lamina. In addition, myd mice reveal that dystroglycan targets proteins to functional sites in brain through its interactions with extracellular matrix proteins. These results suggest that at least three distinct mammalian genes function within a convergent post-translational processing pathway during the biosynthesis of dystroglycan, and that abnormal dystroglycan-ligand interactions underlie the pathogenic mechanism of muscular dystrophy with brain abnormalities.
- University of Helsinki Finland
- Johns Hopkins University United States
- Newcastle University United Kingdom
- University of Iowa United States
- Helsinki University Hospital Finland
Male, Neurons, Extracellular Matrix Proteins, Glycosylation, Membrane Glycoproteins, Muscles, Brain, Eye, Ligands, Mice, Mutant Strains, Muscular Dystrophies, Cytoskeletal Proteins, Mice, Cell Movement, Animals, Humans, Female, Dystroglycans, Gene Deletion, Protein Binding
Male, Neurons, Extracellular Matrix Proteins, Glycosylation, Membrane Glycoproteins, Muscles, Brain, Eye, Ligands, Mice, Mutant Strains, Muscular Dystrophies, Cytoskeletal Proteins, Mice, Cell Movement, Animals, Humans, Female, Dystroglycans, Gene Deletion, Protein Binding
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