| First Author | Saywell V | Year | 2006 |
| Journal | Biochem Biophys Res Commun | Volume | 340 |
| Issue | 3 | Pages | 776-83 |
| PubMed ID | 16380085 | Mgi Jnum | J:104731 |
| Mgi Id | MGI:3612723 | Doi | 10.1016/j.bbrc.2005.12.080 |
| Citation | Saywell V, et al. (2006) Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism. Biochem Biophys Res Commun 340(3):776-83 |
| abstractText | Rett syndrome, a neurodevelopmental X-linked disorder, represents the most important genetic cause of severe mental retardation in the female population and results from a mutation in the gene encoding methyl-CpG-binding protein 2 (MECP2). We report here the first characterization of Mecp2-null mice, by in vivo magnetic resonance imaging and spectroscopy, delineating the cerebral phenotype associated with the lack of Mecp2. We performed a morphometric study that revealed a size reduction of the whole brain and of structures involved in cognitive and motor functions (cerebellum and motor cortex). Significant metabolic anomalies, including reduced N-acetylaspartate, myo-inositol, and glutamine plus glutamate, and increased choline levels were evidenced. These findings indicate that not only neuronal but also glial metabolism is affected in Mecp2-null mice. Furthermore, we uncovered an important reduction of brain ATP level, a hitherto undetected anomaly of energy metabolism that may reflect and contribute to cerebral injury and dysfunction. |
