Altered morphology of YFP-expressing neurons in a Rett Syndrome mouse model




Stuss, David P.

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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.



Rett syndrome, Neurons, Autism