Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

Biochem Biophys Res Commun. 2006 Feb 17;340(3):776-83. doi: 10.1016/j.bbrc.2005.12.080. Epub 2005 Dec 20.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Animals
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Brain / metabolism
  • Brain / pathology*
  • Choline / metabolism
  • CpG Islands
  • Energy Metabolism
  • Female
  • Gene Deletion*
  • Genotype
  • Glutamic Acid / metabolism
  • Glutamine / metabolism
  • Inositol / metabolism
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Methyl-CpG-Binding Protein 2 / physiology*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Transgenic
  • Mutation
  • Neuroglia / metabolism
  • Neurons / metabolism
  • Phenotype

Substances

  • Methyl-CpG-Binding Protein 2
  • Glutamine
  • Aspartic Acid
  • Glutamic Acid
  • Inositol
  • Adenosine Triphosphate
  • N-acetylaspartate
  • Choline