title: ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.
abstract: Astrocytes are the predominant glial cell population in the central nervous system (CNS). Once considered only passive scaffolding elements, astrocytes are now recognised as cells playing essential roles in CNS development and function. They control extracellular water and ion homeostasis, provide substrates for energy metabolism, and regulate neurogenesis, myelination and synaptic transmission. Due to these multiple activities astrocytes have been implicated in almost all brain pathologies, contributing to various aspects of disease initiation, progression and resolution. Evidence is emerging that astrocyte dysfunction can be the direct cause of neurodegeneration, as shown in Alexander's disease where myelin degeneration is caused by mutations in the gene encoding the astrocyte-specific cytoskeleton protein glial fibrillary acidic protein. Recent studies point to a primary role for astrocytes in the pathogenesis of other genetic leukodystrophies such as megalencephalic leukoencephalopathy with subcortical cysts and vanishing white matter disease. The aim of this review is to summarize current knowledge of the pathophysiological role of astrocytes focusing on their contribution to the development of the above mentioned leukodystrophies and on new perspectives for the treatment of neurological disorders.
authors: Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors: Angela
authors: A
authors: Lanciotti
authors: Maria Stefania
authors: MS
authors: Brignone
authors: Enrico
authors: E
authors: Bertini
authors: Tamara C
authors: TC
authors: Petrucci
authors: Francesca
authors: F
authors: Aloisi
authors: Elena
authors: E
authors: Ambrosini
keywords: Alexander’s disease; CNS diseases; Glial cells; Ion homeostasis; Leukodystrophies; Megalencephalic leukoencephalopathy with subcortical cysts (MLC); Myelin; Vanishing white matter disease