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Astrocyte dysfunction in megalencephalic leukoencephalopathy with Subcortical Cysts (pp.125-144) $100.00
Authors:  (Raul Estevez, Department Physiological Sciences II, School of Medicine, University of Barcelona, Barcelona, Spain and others)
Abstract:
In the normal CNS, astrocytes actively regulate normal brain function. The regulation of processes related to brain homeostasis and myelination seems to be its major task. The role of astrocytes in myelin biology is impressively illustrated by mutations in astrocyte-expressed genes in human leukodystrophies (genetic diseases of the white matter).
We review here Megalencephalic leukoencephalopathy with subcortical cysts (MLC), which is a vacuolating myelinopathy.
The genes affected in this disease code for a membrane protein with low homology to ion channels (MLC1) and an adhesion membrane protein of poorly characterized function (GlialCAM), which acts as an escort molecule of MLC1. In addition, GlialCAM functions as an auxiliary subunit of the chloride channel ClC-2, and ClC-2 knockout mice display an MLC-like phenotype.
We provide here an introduction about this disorder and review the last findings. The study of MLC disease provides new exciting insights about the role of astrocytes in the process of myelin homeostasis. 


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Astrocyte dysfunction in megalencephalic leukoencephalopathy with Subcortical Cysts (pp.125-144)