• search hit 4 of 5
Back to Result List

The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis

  • 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.

Export metadata

Additional Services

Share in Twitter Search Google Scholar Availability
Metadaten
Document Type:Article
Language:English
Parent Title (English):Mol Genet Metab. (Molecular Genetics and Metabolism)
Volume:85
Issue:1
First Page:12
Last Page:20
ISSN:1096-7192
DOI:https://doi.org/10.1016/j.ymgme.2005.01.008
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=15862276
Publisher:Elsevier
Publication year:2005
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IfGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/08/18