- Trudler, Dorit;
- Ghatak, Swagata;
- Bula, Michael;
- Parker, James;
- Talantova, Maria;
- Luevanos, Melissa;
- Labra, Sergio;
- Grabauskas, Titas;
- Noveral, Sarah;
- 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;
- Nakanishi, Nobuki;
- Geschwind, Daniel;
- Chan, Shing;
- Lin, Wei;
- Schork, Nicholas;
- Ambasudhan, Rajesh;
- Lipton, Stuart
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.