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Therapeutic prospects for Rett Syndrome
A new report in the advance online version of Science reports reversal of Rett syndrome symptoms in mice by the reactivation of the MECP2 gene.
Rett syndrome is a dominantly inherited autism spectrum disorder that mainly affects girls, caused by mutation of the MECP2 gene located on the X chromosome. The syndrome is associated with neurological problems, which result in progressive loss of mobility and cognitive development from early childhood; breathing irregularities are also common.
Researchers created a mouse model of the disease by blocking expression of the MECP2 gene; affected mice developed Rett-like symptoms including impaired mobility and breathing difficulties. They report that reactivation of the MECP2 gene in affected mice caused rapid disappearance of most of the symptoms.This work does not herald an imminent therapy for Rett syndrome, as the technique could not be used in humans, but does suggest that the neurological symptoms are theoretically reversible. Previously, it was assumed that the expression of mutated Mecp2 protein during development caused permanent neurological damage. This could also have implications for other autism spectrum disorders.
Keywords: Disease Susceptibility (Genetic), Gene Therapy