Linked Life Data

12404908

Source:http://linkedlifedata.com/resource/pubmed/id/12404908

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
41
pubmed:dateCreated
2002-10-30
pubmed:abstractText
Leukoencephalopathy with vanishing white matter (VWM) is a newly defined autosomal recessive disorder. The clinical course is chronically progressive with additional episodes of rapid deterioration, provoked by fever and minor head trauma. We recently identified the five genes associated with VWM: EIF2B1-5. They encode the five subunits of eIF2B, which is a eukaryotic translation initiation factor expressed in all human tissues and highly conserved during evolution. eIF2B has a key role in the regulation of protein synthesis. It is the most important factor to down-regulate protein synthesis during mild temperature stress, when a decrease in protein synthesis is necessary to prevent proteins, not protected by heat shock proteins, from coagulating. Most mutations found in the eIF2B genes are 'mild' and lead to the substitution of a single amino acid. Major rearrangements are only found in the heterozygous state with an amino acid substitution as second mutation. It is likely that the presence of two mutations, which lead to a total loss of one subunit, is not viable. Two founder effects were observed in the Dutch population. One concerned EIF2B5 and was observed in the region of Zwolle; the second was observed in the region of Weert and concerned EIF2B2. The diagnosis of VWM is based on typical MRI findings. DNA analysis is possible and will be limited to cases in which MRI findings are suggestive of VWM. Prenatal diagnosis is an option in the families in which the responsible mutations have been identified.
pubmed:commentsCorrections
pubmed:language
dut
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0028-2162
pubmed:author
pubmed:issnType
Print
pubmed:day
12
pubmed:volume
146
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1933-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter].
pubmed:affiliation
Afd. Klinische en Humane Genetica, Vrije Universiteit Medisch Centrum, Postbus 7057, 1007 MB Amsterdam.
pubmed:publicationType
Journal Article, English Abstract, Research Support, Non-U.S. Gov't