Abstract：
:Rett syndrome (RS) is an X-linked neurodevelopmental disorder mostly involving mutations in the gene for methyl-CpG-binding protein 2 (MECP2). Ganglioside abnormalities were previously found in cerebrum and cerebellum in RS patients. We evaluated total lipid distribution in cerebrum/brainstem, hippocampus, and cerebellum in male mice carrying either the Mecp2 (tm1.1Bird) knockout mutation or the Mecp2 (308/y) deletion mutation. The concentration of the neuronal enriched ganglioside GD1a was significantly lower in the cerebrum/brainstem of Mecp2 (tm1.1Bird) mice than in that of age matched controls, but was not reduced in the Mecp2 (308/y) mice. No other differences in brain lipid content, including myelin-enriched cerebrosides, were detected in mice with either type of Mecp2 mutation. These findings indicate that the poor motor performance previously reported in the RS mutant mice is not associated with major brain lipid abnormalities and that most previous brain lipid abnormalities observed in RS patients were not observed in the Mecp2 (tm1.1Bird) or the Mecp2 (308/y) RS mice.
journal_name
Neurochem Resjournal_title
Neurochemical researchauthors
Seyfried TN,Heinecke KA,Mantis JG,Denny CAdoi
10.1007/s11064-008-9874-7subject
Has Abstractpub_date
2009-06-01 00:00:00pages
1057-65issue
6eissn
0364-3190issn
1573-6903journal_volume
34pub_type
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