Thursday, October 31, 2013
Publication and contact
Methyl CpG binding protein 2 (MECP2;
neurons derived from human embryonic stem cells (hESCs)
MECP2-deficient neurons derived from hESCs could be
useful for studying Rett syndrome and screening for therapeutics to treat the
activator-like effector nuclease (TALEN)-based
genome editing was used to generate MECP2-deficient hESCs, which were
then differentiated into neurons. MECP2-deficient neurons showed
impairments in transcriptional activity, protein synthesis, neurite
complexity and protein
kinase B (PKB;
target of rapamycin (mTOR;
pathway signaling, whereas nondeficient isogenic neurons did not. In the MECP2-deficient
neurons, activation of AKT and mTOR signaling rescued impairments in
transcriptional activity, protein synthesis and neuronal complexity. Next
steps could include using the neurons to evaluate therapeutic candidates to
treat Rett syndrome.
Published online Oct. 31, 2013
Patent and licensing status
Li, Y. et al. Cell Stem
published online Oct. 3, 2013;
Contact: Rudolf Jaenisch, Whitehead Institute for Biomedical
Research, Cambridge, Mass.
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