Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.

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作者:Trudler Dorit, Ghatak Swagata, Bula Michael, Parker James, Talantova Maria, Luevanos Melissa, Labra Sergio, Grabauskas Titas, Noveral Sarah Moore, Teranaka Mayu, Schahrer Emily, Dolatabadi Nima, Bakker Clare, Lopez Kevin, Sultan Abdullah, Patel Parth, Chan Agnes, Choi Yongwook, Kawaguchi Riki, Stankiewicz Pawel, Garcia-Bassets Ivan, Kozbial Piotr, Rosenfeld Michael G, Nakanishi Nobuki, Geschwind Daniel H, Chan Shing Fai, Lin Wei, Schork Nicholas J, Ambasudhan Rajesh, Lipton Stuart A
MEF2C is a critical transcription factor in neurodevelopment, whose loss-of-function mutation in humans results in MEF2C haploinsufficiency syndrome (MHS), a severe form of autism spectrum disorder (ASD)/intellectual disability (ID). Despite prior animal studies of MEF2C heterozygosity to mimic MHS, MHS-specific mutations have not been investigated previously, particularly in a human context as hiPSCs afford. Here, for the first time, we use patient hiPSC-derived cerebrocortical neurons and cerebral organoids to characterize MHS deficits. Unexpectedly, we found that decreased neurogenesis was accompanied by activation of a micro-(mi)RNA-mediated gliogenesis pathway. We also demonstrate network-level hyperexcitability in MHS neurons, as evidenced by excessive synaptic and extrasynaptic activity contributing to excitatory/inhibitory (E/I) imbalance. Notably, the predominantly extrasynaptic (e)NMDA receptor antagonist, NitroSynapsin, corrects this aberrant electrical activity associated with abnormal phenotypes. During neurodevelopment, MEF2C regulates many ASD-associated gene networks, suggesting that treatment of MHS deficits may possibly help other forms of ASD as well.

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