This week in techniques



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Disease models

Induced 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 in SH3 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 cells.
Researchers at the Icahn School of Medicine at Mount Sinai are conducting a Phase II trial of IGF-1 in PMDS.

SciBX 6(47); doi:10.1038/scibx.2013.1362
Published online Dec. 12, 2013

Patent and licensing status undisclosed

Shcheglovitov, A. et al. Nature; published online Oct. 16, 2013;
Contact: Ricardo E. Dolmetsch, Novartis Institutes for BioMedical Research, Cambridge, Mass.