Vanishing white matter: the next 10 years
Vanishing white matter: the next 10 years
Vanishing white matter (VWM) is an inherited and often severe brain disease. It is caused by mutations in the genes for eIF2B, a protein that plays a key role in mRNA translation. The age of onset and clinical features are highly variable. In severe cases, onset may be antenatal and other organs are affected. The main feature is always a progressive encephalopathy, faster deterioration being provoked by head injury or febrile infections. The myelinating cells, oligodendrocytes, are affected in VWM. Initial studies suggested that VWM mutations decreased eIF2B’s activity. However, recent findings indicate that the situation is more complex. Studies in human brain samples or a mouse model for VWM indicate that development of astroglial cells and oligodendrocytes is impaired. Defects in eIF2B likely affect cell stress pathways and the expression of specific proteins, although their identities remain unknown.
81-92
Proud, Christopher G.
59dabfc8-4b44-4be8-a17f-578a58550cb3
January 2012
Proud, Christopher G.
59dabfc8-4b44-4be8-a17f-578a58550cb3
Proud, Christopher G.
(2012)
Vanishing white matter: the next 10 years.
Future Neurology, 7 (1), .
(doi:10.2217/fnl.11.63).
Abstract
Vanishing white matter (VWM) is an inherited and often severe brain disease. It is caused by mutations in the genes for eIF2B, a protein that plays a key role in mRNA translation. The age of onset and clinical features are highly variable. In severe cases, onset may be antenatal and other organs are affected. The main feature is always a progressive encephalopathy, faster deterioration being provoked by head injury or febrile infections. The myelinating cells, oligodendrocytes, are affected in VWM. Initial studies suggested that VWM mutations decreased eIF2B’s activity. However, recent findings indicate that the situation is more complex. Studies in human brain samples or a mouse model for VWM indicate that development of astroglial cells and oligodendrocytes is impaired. Defects in eIF2B likely affect cell stress pathways and the expression of specific proteins, although their identities remain unknown.
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Published date: January 2012
Organisations:
Centre for Biological Sciences
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Local EPrints ID: 350177
URI: http://eprints.soton.ac.uk/id/eprint/350177
ISSN: 1479-6708
PURE UUID: b653ee2c-5c51-4a57-bb24-e5125d395716
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Date deposited: 19 Mar 2013 11:23
Last modified: 14 Mar 2024 13:21
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Author:
Christopher G. Proud
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