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

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Tác giả: Rajesh Ambasudhan, Clare Bakker, Michael Bula, Agnes Chan, Shing Fai Chan, Yongwook Choi, Nima Dolatabadi, Ivan Garcia-Bassets, Daniel H Geschwind, Swagata Ghatak, Titas Grabauskas, Riki Kawaguchi, Piotr Kozbial, Sergio Labra, Wei Lin, Stuart A Lipton, Kevin Lopez, Melissa Luevanos, Nobuki Nakanishi, Sarah Moore Noveral, James Parker, Parth Patel, Michael G Rosenfeld, Emily Schahrer, Nicholas J Schork, Pawel Stankiewicz, Abdullah Sultan, Maria Talantova, Mayu Teranaka, Dorit Trudler

Ngôn ngữ: eng

Ký hiệu phân loại: 912.01 Philosophy and theory

Thông tin xuất bản: England : Molecular psychiatry , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 719804

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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