MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet
| Autor: | Kevin E. Bove, Ignacio Pascual-Castroviejo, Machiel M. Nagtegaal, Ilja Boor, Raúl Estévez, Paul van der Valk, Francesco Muntoni, A. Dinopoulos, Marjo S. van der Knaap, Gert C. Scheper, Wouter Kamphorst, Jack van Horssen, Jan C. Pronk |
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| Přispěvatelé: | Other departments, Pediatric surgery, Pathology, Human genetics, Molecular cell biology and Immunology |
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
MLC1
Pathology medicine.medical_specialty Multiple Sclerosis Endfeet Blotting Western Clinical Neurology Pathology and Forensic Medicine Dystrophin-Associated Protein Complex Dystrophin-associated glycoprotein complex Cellular and Molecular Neuroscience Dystrophin-associated protein complex Glycoprotein complex Glioma Dystroglycan medicine Humans Immunoprecipitation Potassium Channels Inwardly Rectifying Central Nervous System Cysts Syntrophin Glycoproteins Aquaporin 4 Original Paper biology Brain Neoplasms Multiple sclerosis Brain Membrane Proteins Leukodystrophy medicine.disease Immunohistochemistry Astrocytes biology.protein Heredodegenerative Disorders Nervous System Neurology (clinical) |
| Zdroj: | Acta Neuropathologica Acta neuropathologica, 114(4), 403-410. Springer Verlag Boor, I, Nagtegaal, M, Kamphorst, W, van der Valk, P, Pronk, J C, van Horssen, J, Dinopoulos, A, Bove, K E, Pascual-Castroviejo, I, Muntoni, F, Estévez, R, Scheper, G C & van der Knaap, M S 2007, ' MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet ', Acta Neuropathologica, vol. 114, no. 4, pp. 403-10 . https://doi.org/10.1007/s00401-007-0247-0 Acta Neuropathologica, 114(4), 403-10. Springer Verlag |
| ISSN: | 1432-0533 0001-6322 |
| Popis: | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease with onset in childhood, caused by mutations in the MLC1 gene. MLC1 is a protein with unknown function that is mainly expressed in the brain in astrocytic endfeet at the blood-brain and cerebrospinal fluid-brain barriers. It shares its localization at astrocytic endfeet with the dystrophin-associated glycoprotein complex (DGC). The objective of the present study was to investigate the possible association of MLC1 with the DGC. To test this hypothesis, (co)-localization of DGC-proteins and MLC1 was analyzed by immunohistochemical stainings in gliotic brain tissue from a patient with multiple sclerosis, in glioblastoma tissue and in brain tissue from an MLC patient. In control tissue, a direct protein interaction was tested by immunoprecipitation. Results revealed that MLC1 is co-localized with DGC-proteins in gliotic brain tissue. We demonstrated that both MLC1 and aquaporin-4, a member of the DGC, were redistributed in glioblastoma cells. In MLC brain tissue, we showed absence of MLC1 and altered expression of several DGC-proteins. We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet. |
| Databáze: | OpenAIRE |
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