Thursday, December 12, 2013
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pluripotent stem (iPS) cell model of
Phelan-McDermid syndrome (PMDS)
Studies in cell culture
suggest patient-derived iPS cells could be useful for studying PMDS. PMDS is
a form of autism spectrum disorder (ASD) caused by loss-of-function mutations
and multiple ankyrin repeat domains 3 (SHANK3; PROSAP2; SPANK-2). In cell
culture, iPS cell-derived neurons from patients with PMDS had lower levels of
glutamate receptors and showed decreased synaptic connectivity and excitatory
signaling compared with iPS cell-derived neurons from healthy individuals. In
the PMDS neurons, insulin-like growth factor-1 (IGF-1) increased synaptic
maturation and excitatory signaling compared with vehicle. Next steps could
include identifying small molecules that mimic the effect of IGF-1 in PMDS
Researchers at the Icahn
School of Medicine at Mount Sinai are conducting a Phase II
trial of IGF-1 in PMDS.
Published online Dec. 12, 2013
Patent and licensing status
Shcheglovitov, A. et al.
Nature; published online Oct. 16, 2013;
Contact: Ricardo E. Dolmetsch, Novartis Institutes for
BioMedical Research, Cambridge, Mass.
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