Path to Treat Rett Syndrome

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Science  18 Oct 2013:
Vol. 342, Issue 6156, pp. 318-320
DOI: 10.1126/science.1245657

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Rett syndrome (RTT), a unique neurodevelopmental disorder seen almost exclusively in females, was first recognized about 50 years ago by Andreas Rett (1), a developmental pediatrician in Vienna, and virtually simultaneously by Bengt Hagberg, a Swedish neurologist. However, not until a chance meeting of the two in 1981 were these observations crystallized, yielding the first widely read English-language description of RTT (2). Thereafter, RTT received considerable attention throughout the world. Concerted effort led to the identification of mutations in the gene Methyl-CpG-binding protein 2 (MECP2) in 1999 (3), whereupon laboratory-oriented research exploded, including the development of numerous animal models. A key observation from an early mouse model indicated the possibility of substantial reversibility of the disease phenotype (4). Since then, translational research has been conducted in available mouse models to identify potential therapies including insulin-like growth factor 1 (IGF-1) (5), disabling GABAergic neuron function (6), and stem cell transplantation (7). Recently, intriguing results showed that alterations in cholesterol metabolism in response to statin therapy (8) had a beneficial effect on RTT-associated symptoms in a mouse model of the disease. This has prompted interest in advancing this treatment to humans.