DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review

• Published in: International journal of molecular sciences Vol. 24; no. 11; p. 9138
• Main Authors: Stoccoro, Andrea, Conti, Eugenia, Scaffei, Elena, Calderoni, Sara, Coppedè, Fabio, Migliore, Lucia, Battini, Roberta
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 23.05.2023; MDPI
• Subjects: Autism; autism spectrum disorder; Autism Spectrum Disorder - diagnosis; Autism Spectrum Disorder - genetics; Biomarkers; Cardiac patients; Child; Child, Preschool; Children; Deoxyribonucleic acid; DNA; DNA Methylation; DNA sequencing; Epigenesis, Genetic; Epigenetic inheritance; Epigenetics; Genes; Genetic aspects; Genomes; Genomics; Humans; idiopathic ASD; Methylation; Nucleotide sequence; Nucleotide sequencing; Pathogenesis; peripheral biomarkers; Peripheral blood; Phenotype; Review; Saliva; DNA methylation; peripheral biomarkers; autism spectrum disorder; epigenetics; idiopathic ASD
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms24119138

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, the underlying pathological mechanisms of which are not yet completely understood. Although several genetic and genomic alterations have been linked to ASD, for the majority of ASD patients, the cause remains unknown, and the condition likely arises due to complex interactions between low-risk genes and environmental factors. There is increasing evidence that epigenetic mechanisms that are highly sensitive to environmental factors and influence gene function without altering the DNA sequence, particularly aberrant DNA methylation, are involved in ASD pathogenesis. This systematic review aimed to update the clinical application of DNA methylation investigations in children with idiopathic ASD, investigating its potential application in clinical settings. To this end, a literature search was performed on different scientific databases using a combination of terms related to the association between peripheral DNA methylation and young children with idiopathic ASD; this search led to the identification of 18 articles. In the selected studies, DNA methylation is investigated in peripheral blood or saliva samples, at both gene-specific and genome-wide levels. The results obtained suggest that peripheral DNA methylation could represent a promising methodology in ASD biomarker research, although further studies are needed to develop DNA-methylation-based clinical applications.