Experimental models of Rett syndrome based on Mecp2 dysfunction.

CALFA G, PERCY AK, POZZO-MILLER L

SOC EXPERIMENTAL BIOLOGY MEDICINE

Año: 2011 vol. 236 p. 3 - 3

ett syndrome (RTT) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetictranscription factor that binds methylated DNA. The clinical hallmarks include a period of apparently normal earlydevelopment followed by a plateau and then subsequent frank regression. Impaired visual and aural contact often lead toan initial diagnosis of autism. The characterization of experimental models based on the loss-of-function of the mouseMecp2 gene revealed that subtle changes in the morphology and function of brain cells and synapses have profoundconsequences on network activities that underlie critical brain functions. Furthermore, these experimental models havebeen used for successful reversals of RTT-like symptoms by genetic, pharmacological and environmental manipulations,raising hope for novel