Rett Syndrome


Studies from M. Alvarez-Saavedra et al provide new data on neural networks



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2007 NOV 12 -- Data detailed in 'Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis' have been presented. According to a study from Valdivia, Chile, "Rett syndrome (RTT), a leading cause of mental retardation with autistic features in females, is caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). RTT is characterized by a diverse set of neurological features that includes cognitive, motor, behavioral and autonomic disturbances."

"The diverse features suggest that specific neurons contribute to particular phenotypes and raise the question whether restoring MeCP2 function in a cell-specific manner will rescue some of the phenotypes seen in RTT. To address this, we generated transgenic mice expressing inducible MeCP2 under the control of the brain-specific promoters calcium/calmodulin-dependent protein kinase II (CamKII) or neuron-specific enolase (Eno2) and bred them onto mouse models lacking functional MeCP2. Expression of normal MeCP2 in either CamKII or Eno2 distribution was unable to prevent the appearance of most of the phenotypes of the RTT mouse models," wrote M. Alvarez-Saavedra and colleagues, .

The researchers concluded: "These results suggest that most RTT phenotypes are caused either by disruption of complex neural networks involving neurons throughout the brain or by disruption of the function of specific neurons outside of the broad CamKII or Eno2 distribution."

Alvarez-Saavedra and colleagues published their study in Human Molecular Genetics (Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Human Molecular Genetics, 2007;16(19):2315-25).

For more information, contact M. Alvarez-Saavedra, Centro de Estudios Cientificos, Valdivia, Chile.

Publisher contact information for the journal Human Molecular Genetics is: Oxford University Press, Great Clarendon St., Oxford OX2 6DP, England.

Keywords: Chile, Valdivia, Developmental Disabilities, Mental Retardation, Neural Networks, Rett Syndrome.

This article was prepared by Mental Health Weekly Digest editors from staff and other reports. Copyright 2007, Mental Health Weekly Digest via NewsRx.com.