Rett Syndrome (RTT, OMIM 312750) is a pervasive autism spectrum disorder affecting
1 in 10,000 females. The majority of cases are caused by mutations in the X-linked gene
MECP2. The RTT phenotype appears to be caused by impaired synapse maturation or
maintenance, resulting in disrupted autonomic nervous system function, mental
retardation, ataxia, apraxia, and movement stereotypies. While not a neurodegenerative
disorder RTT is marked by region-specific reductions in brain volume. We examined the
morphology of YFP-expressing Layer 5 pyramidal neurons in the motor cortex of a
MeCP2 mutant RTT mouse model. Mutant mice exhibited smaller somata and reduced
dendritic lengths in both the apical tuft and basal arbor. Basal dendritic branching was also reduced proximal to the soma. These changes are consistent with the motor deficits observed in mutant mice and in human RTT patients. Altered expression of a Thy-1-YFP reporter transgene in MeCP2 mutant mice is also described.
| Identifer | oai:union.ndltd.org:uvic.ca/oai:dspace.library.uvic.ca:1828/3119 |
| Date | 16 November 2010 |
| Creators | Stuss, David P. |
| Contributors | Delaney, Kerry R. |
| Source Sets | University of Victoria |
| Language | English, English |
| Detected Language | English |
| Type | Thesis |
| Rights | Available to the World Wide Web |
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