In a study on Rett syndrome (RTT), a neurodevelopmental disorder stemming from a loss-of-function mutation in the X-linked MECP2 gene, researchers found that small molecule inhibitors that targeted X chromosome inactivation factors (XCIFs) reactivated inactive X chromosome (Xi)-linked MECP2 and rectified morphological defects in human induced pluripotent stem cell-derived RTT-neurons; intracerebroventricular injection of the XCIF inhibitors in living adult mice reactivated Xi-linked MECP2 in cerebral cortical neurons, findings with potential therapeutic applications for RTT.
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Article #18-03792: "Pharmacological reactivation of inactive X-linked Mecp2 in cerebral cortical neurons of living mice," by Piotr Przanowski et al.
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Proceedings of the National Academy of Sciences