Epigenetic Findings in Autism: New Perspectives for Therapy

International Journal of Environmental Research and Public Health

Dario Siniscalco³  Alessandra Cirillo¹  James Jeffrey Bradstreet² 

[1] Institute of Protein Biochemistry, National Research Council of Italy; Naples 80128, Italy; E-Mail:;International Child Development Resource Center, Chateau Elan 30517, USA; E-Mail:;Department of Experimental Medicine, Second University of Naples; via S. Maria di Costantinopoli, Napoli 16-80138, Italy

关键词: autism;    gene expression;    environmental factors;   

DOI  :  10.3390/ijerph10094261

来源: mdpi

【 摘 要 】

Autism and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, communications, restricted interests, and repetitive stereotypic behaviors. Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. However, accumulating evidence points to the involvement of epigenetic modifications as foundational in creating ASD pathophysiology. Epigenetic modifications or the alteration of DNA transcription via variations in DNA methylation and histone modifications but without alterations in the DNA sequence, affect gene regulation. These alterations in gene expression, obtained through DNA methylation and/or histone modifications, result from transcriptional regulatory influences of environmental factors, such as nutritional deficiencies, various toxicants, immunological effects, and pharmaceuticals. As such these effects are epigenetic regulators which determine the final biochemistry and physiology of the individual. In contrast to psychopharmacological interventions, bettering our understanding of how these gene-environmental interactions create autistic symptoms should facilitate the development of therapeutic targeting of gene expression for ASD biomedical care.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland.