Researchers developed a mouse model for Rett Syndrome (RTT), a neurodevelopmental disorder resulting from a mutation in the X-linked protein MECP2, in which the mice exhibit short lifespans, neuromotor impairment, and repetitive behaviors observed in RTT; the researchers demonstrated a correlation between MECP2 levels and amelioration of the RTT phenotype, finding that 5-10% of MECP2 restoration is associated with improved neuromotor function and extended lifespan in mice, findings with therapeutic implications for RTT.
Article #18-00931: "Tsix-Mecp2 female mouse model for Rett Syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function," by Lieselot Carrette, Roy Blum, Weiyuan Ma, Raymond Kelleher III, and Jeannie T. Lee.
MEDIA CONTACT: Jeannie T. Lee, Harvard Medical School Massachusetts General Hospital, Boston, MA; tel: 617-726-5943; e-mail: <lee@molbio.mgh.harvard.edu>
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Journal
Proceedings of the National Academy of Sciences