Involvement of myocyte enhancer factor 2c in the pathogenesis of autism spectrum disorder

• Main Authors: Rishabh Chaudhary, Vipul Agarwal, Arjun Singh Kaushik, Mujeeba Rehman
• Format: Article
• Language: English
• Published: Elsevier 2021-04-01
• Series: Heliyon
• Subjects: Autism; Myocyte enhancer factor 2; MEF2C; Haploinsufficiency syndrome; Fragile X syndrome
• Online Access: http://www.sciencedirect.com/science/article/pii/S2405844021009579

Myocyte enhancer factor 2 (MEF2), a family of transcription factor of MADS (minichromosome maintenance 1, agamous, deficiens and serum response factor)-box family needed in the growth and differentiation of a variety of human cells, such as neural, immune, endothelial, and muscles. As per existing literature, MEF2 transcription factors have also been associated with synaptic plasticity, the developmental mechanisms governing memory and learning, and several neurologic conditions, like autism spectrum disorders (ASDs). Recent genomic findings have ascertained a link between MEF2 defects, particularly in the MEF2C isoform and the ASD. In this review, we summarized a concise overview of the general regulation, structure and functional roles of the MEF2C transcription factor. We further outlined the potential role of MEF2C as a risk factor for various neurodevelopmental disorders, such as ASD, MEF2C Haploinsufficiency Syndrome and Fragile X syndrome.