Keywords
How to Cite
Abstract
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social interaction, communication difficulties, and repetitive and restricted behaviors. Recent studies suggest that, in addition to genetic factors, epigenetic mechanisms — such as DNA methylation, histone modifications, and non-coding RNA — play essential roles in regulating gene expression related to brain development. These mechanisms are often influenced by environmental factors, including exposure to chemicals, maternal nutrition, stress, and infections during pregnancy. The integration of genetic predisposition, epigenetic changes, and environmental influences may explain the clinical heterogeneity observed in ASD. Research indicates that approaches based on epigenetic signatures hold promise for refining diagnostics, identifying novel therapeutic targets, and personalizing clinical interventions. Therefore, a deeper understanding of these interactions is crucial for developing more effective strategies for early diagnosis and therapeutic management of ASD.
References
AL-AYADHI, L.; EL-ANSARY, A.; BJØRKLUND, G.; CHIRUMBOLO, S.; MOSTAFA, G. A. Impact of Auditory Integration Therapy (AIT) on the Plasma Levels of Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) in Autism Spectrum Disorder. J Mol Neurosci., v. 68, n. 4, p. 688-695.
ALI RAJA, S.; BATOOL, A.; SANA, M.; KHALIQ, H. M. H.; CHOUDHRY, F.; DEVI, D. Exploring the Mechanisms of Neuronal Protection by Glial Cell Line-Derived Neurotrophic Factor in Autism Spectrum Disorder. Cureus., v. 16, n. 10, p. e70913.
BHANDARI, R.; PALIWAL, J. K.; KUHAD, A. Neuropsychopathology of Autism Spectrum Disorder: Complex Interplay of Genetic, Epigenetic, and Environmental Factors. Adv Neurobiol., v. 24, p. 97-141.
GENTILINI, D.; CAVAGNOLA, R.; POSSENTI, I.; CALZARI, L.; RANUCCI, F.; NOLA, M.; OLIVOLA, M.; BRONDINO, N.; POLITI, P. Epigenetics of Autism Spectrum Disorders: A Multi-level Analysis Combining Epi-signature, Age Acceleration, Epigenetic Drift and Rare Epivariations Using Public Datasets. Curr Neuropharmacol., v. 21, n. 11, p. 2362-2373.
LEE, C. L.; CHUANG, C. K.; TU, R. Y.; CHIU, H. C.; LO, Y. T.; CHANG, Y. H.; CHEN, Y. J.; CHOU, C. L.; WU, P. S.; CHEN, C. P.; LIN, H. Y.; LIN, S. P. Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. Medicina (Kaunas)., v. 58, n. 1, p. 15.
NARDONE, S.; SAMS, D. S.; ZITO, A.; REUVENI, E.; ELLIOTT, E. Dysregulation of Cortical Neuron DNA Methylation Profile in Autism Spectrum Disorder. Cereb Cortex., v. 27, n. 12, p. 5739-5754.
SIU, M. T.; BUTCHER, D. T.; TURINSKY, A. L.; CYTRYNBAUM, C.; STAVROPOULOS, D. J.; WALKER, S.; CALUSERIU, O.; CARTER, M.; LOU, Y.; NICOLSON, R.; GEORGIADES, S.; SZATMARI, P.; ANAGNOSTOU, E.; SCHERER, S. W.; CHOUFANI, S.; BRUDNO, M.; WEKSBERG, R. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin Epigenetics., v. 11, n. 1, p. 103.
SIU, M. T.; WEKSBERG, R. Epigenetics of Autism Spectrum Disorder. Adv Exp Med Biol., v. 978, p. 63-90.
WAYE, M. M. Y.; CHENG, H. Y. Genetics and epigenetics of autism: A Review. Psychiatry Clin Neurosci., v. 72, n. 4, p. 228-244.
YU, L.; WU, Y.; WU, B. L. Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism. Sci China Life Sci., v. 58, n. 10, p. 958-967.
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2025 Ana Paula Jorge Gonçalves de Oliveira, Zoraia Cajueiro de Oliveira, Nathan Borges Marretto, Fernanda Moura Prado Cassara , Brenno Franco Silva da Costa, Luiz Eduardo Okada Barbosa, Stephano Rodrigo Silva Xavier, Cezar Ernani Mancini, Daniel Nassau de Araujo, Tayana da Silva Moura Garcia , Arthur Schneider de Almeida, Mariana Luísa da Silva Azevedo