Expression patterns of MLC1 protein in the central and peripheral nervous systems.
Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), a disorder characterized clinically by macrocephaly, deterioration of motor functions, epilepsy and mental decline. Recent studies have detected MLC1 mRNA and protein in astroglial processes. In addition, our group previously reported MLC1 expression in some neurons in the adult mouse brain. Here we performed an exhaustive study of the expression pattern of MLC1 in the developing mouse brain by means of optic and electron microscopy. In the central nervous system, MLC1 was detected mainly in axonal tracts early in development. In addition, MLC1 was also observed in the peripheral nervous system and in several sensory epithelia, as retina or saccula maculae. Post-embedding immunogold experiments indicated that MLC1 is localized in astrocyte-astrocyte junctions, but not in the perivascular membrane, indicating that MLC1 is not a component of the dystrophin-glycoprotein complex. In neurons, MLC1 is located at the plasma membrane and vesicular structures. Our data provide a mouse MLC1 expression map that could be useful to understand the phenotype of MLC patients, and suggested that MLC disease is caused by an astrocytic and a neuronal dysfunction.
Teijido
Oscar
O
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona and Institute for Research in Biomedicine, Barcelona Science Park, Josep Samitier 1-5. Barcelona, E-08028, Spain.
Casaroli-Marano
Ricardo
R
Kharkovets
Tatjana
T
Aguado
Fernando
F
Zorzano
Antonio
A
Palacín
Manuel
M
Soriano
Eduardo
E
Martínez
Albert
A
Estévez
Raúl
R
D000818:Animals; D000831:Animals, Newborn; D001253:Astrocytes / Q000378:metabolism / Q000648:ultrastructure; D001931:Brain Mapping; D002462:Cell Membrane / Q000378:metabolism / Q000648:ultrastructure; D002490:Central Nervous System / Q000196:embryology / Q000254:growth & development / Q000378:metabolism*; D022162:Cytoplasmic Vesicles / Q000378:metabolism / Q000648:ultrastructure; D007150:Immunohistochemistry; D007365:Intercellular Junctions / Q000378:metabolism / Q000648:ultrastructure; D008565:Membrane Proteins / Q000378:metabolism*; D051379:Mice; D046529:Microscopy, Electron, Transmission; D018994:Myosin Light Chains / Q000378:metabolism*; D009421:Nervous System Malformations / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D009434:Neural Pathways / Q000196:embryology / Q000254:growth & development / Q000378:metabolism; D009475:Neurons, Afferent / Q000378:metabolism / Q000648:ultrastructure; D017933:Peripheral Nervous System / Q000196:embryology / Q000254:growth & development / Q000378:metabolism*; D051381:Rats
D008565:Membrane Proteins; C498927:Mlc1 protein, mouse; D018994:Myosin Light Chains; C076659:myosin light chain I