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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2005-5-2
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pubmed:abstractText |
Molybdenum cofactor (Moco)-deficiency is a lethal autosomal recessive disease, for which until now no effective therapy is available. The biochemical hallmark of this disorder is the inactivity of the Moco-dependent sulfite oxidase, which results in elevated sulfite and diminished sulfate levels throughout the organism. In humans, Moco-deficiency results in neurological damage, which is apparent in untreatable seizures and various brain dysmorphisms. We have recently described a murine model for Moco-deficiency, which reflects all enzyme and metabolite changes observed in the patients, and an efficient therapy using a biosynthetic precursor of Moco has been established in this animal model. We now analyzed these mice in detail and excluded morphological brain damage, while expression analysis with microarrays indicates a massive cell death program. This neuronal damage appears to be triggered by elevated sulfite levels and is ameliorated in affected embryos by maternal clearance.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1096-7192
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
85
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
12-20
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15862276-Animals,
pubmed-meshheading:15862276-Brain,
pubmed-meshheading:15862276-Cluster Analysis,
pubmed-meshheading:15862276-Coenzymes,
pubmed-meshheading:15862276-DNA, Complementary,
pubmed-meshheading:15862276-Disease Models, Animal,
pubmed-meshheading:15862276-Genotype,
pubmed-meshheading:15862276-Humans,
pubmed-meshheading:15862276-Metabolic Clearance Rate,
pubmed-meshheading:15862276-Metalloproteins,
pubmed-meshheading:15862276-Mice,
pubmed-meshheading:15862276-Mice, Knockout,
pubmed-meshheading:15862276-Myelin Sheath,
pubmed-meshheading:15862276-Nuclear Proteins,
pubmed-meshheading:15862276-Phenotype,
pubmed-meshheading:15862276-Pteridines,
pubmed-meshheading:15862276-RNA,
pubmed-meshheading:15862276-Transcription, Genetic
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pubmed:year |
2005
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pubmed:articleTitle |
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis.
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pubmed:affiliation |
Institut für Humangenetik der Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. jreiss@gwdg.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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