| First Author | Reiss J | Year | 2005 |
| Journal | Mol Genet Metab | Volume | 85 |
| Issue | 1 | Pages | 12-20 |
| PubMed ID | 15862276 | Mgi Jnum | J:98026 |
| Mgi Id | MGI:3576970 | Doi | 10.1016/j.ymgme.2005.01.008 |
| Citation | Reiss J, et al. (2005) The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab 85(1):12-20 |
| 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. |
