Discovery Highlights Potential Treatment to Restore Brain Signal Balance in MEF2C Syndrome
Researchers at The Scripps Research Institute have conducted a groundbreaking study using patient-derived stem cells, offering new insights into MEF2C haploinsufficiency syndrome (MHS), a severe form of autism spectrum disorder (ASD) and intellectual disability (ID). The study revealed that MHS neurons generate fewer new nerve cells and an excess of support cells called astrocytes, driven by changes in microRNA activity. These neurons also display an imbalance in brain signals, with excessive excitatory activity and reduced inhibitory activity, potentially leading to overactive brain networks similar to seizures observed in some MHS patients. Notably, the researchers found that NitroSynapsin, a drug that calms overactive brain signals, successfully restored regular activity in lab-grown neurons. This research underscores the role of MEF2C mutations in brain development and highlights NitroSynapsin’s promise as a potential treatment for MHS and other ASD-related conditions.
