Astroglia in leukodystrophies

M. S. Jorge, Marianna Bugiani

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Abstract

Leukodystrophies are genetically determined disorders affecting the white matter of the central nervous system. The combination of MRI pattern recognition and next-generation sequencing for the definition of novel disease entities has recently demonstrated that many leukodystrophies are due to the primary involvement and/or mutations in genes selectively expressed by cell types other than the oligodendrocytes, the myelin-forming cells in the brain. This has led to a new definition of leukodystrophies as genetic white matter disorders resulting from the involvement of any white matter structural component. As a result, the research has shifted its main focus from oligodendrocytes to other types of neuroglia. Astrocytes are the housekeeping cells of the nervous system, responsible for maintaining homeostasis and normal brain physiology and to orchestrate repair upon injury. Several lines of evidence show that astrocytic interactions with the other white matter cellular constituents play a primary pathophysiologic role in many leukodystrophies. These are thus now classified as astrocytopathies. This chapter addresses how the crosstalk between astrocytes, other glial cells, axons and non-neural cells are essential for the integrity and maintenance of the white matter in health. It also addresses the current knowledge of the cellular pathomechanisms of astrocytic leukodystrophies, and specifically Alexander disease, vanishing white matter, megalencephalic leukoencephalopathy with subcortical cysts and Aicardi–Goutière Syndrome.
Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer New York LLC
Pages199-225
Number of pages27
Volume1175
DOIs
Publication statusPublished - 1 Jan 2019

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1175
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

Cite this

Jorge, M. S., & Bugiani, M. (2019). Astroglia in leukodystrophies. In Advances in Experimental Medicine and Biology (Vol. 1175, pp. 199-225). (Advances in Experimental Medicine and Biology; Vol. 1175). Springer New York LLC. https://doi.org/10.1007/978-981-13-9913-8_9