IFEC   20925
INSTITUTO DE FARMACOLOGIA EXPERIMENTAL DE CORDOBA
Unidad Ejecutora - UE
capítulos de libros
Título:
Dysfunction of the methyl-CpG binding protein MeCP2 in Rett syndrome
Autor/es:
CALFA G, PERCY AK, POZZO-MILLER L
Libro:
Patho-Epigenetics of Disease
Editorial:
Springer
Referencias:
Año: 2012; p. 1 - 59
Resumen:
Rett syndrome (RTT) is a
neurodevelopmental disorder predominantly occurring in females with an
incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes
methyl-CpG-binding protein-2, an epigenetic transcription factor that binds
methylated DNA. The clinical hallmarks include a period of apparently normal
early development followed by a plateau and then subsequent frank regression.
Impaired visual and aural contact often leads to an initial diagnosis of
autism. The characterization of experimental models based on the
loss-of-function of the mouse Mecp2
gene revealed that subtle changes in the morphology and function of brain cells
and synapses have profound consequences on network activities that underlie
critical brain functions. Furthermore, these experimental models have been used
for successful reversals of RTT-like symptoms by genetic, pharmacological and
environmental manipulations, raising hope for novel therapeutic strategies to
improve the quality of life of RTT individuals.