Resumo

RUGGIERI, Víctor  e  ARBERAS, Claudia. Epigenetic mechanisms involved in the genesis of autism. Medicina (B. Aires) [online]. 2022, vol.82, suppl.1, pp.48-53. ISSN 0025-7680.

Autism is a neurobiological developmental disorder characterized by poor social interaction and communication, narrow interests, and stereotyped behaviors. It has been associated with disorders of synaptogenesis and multiple etiologies. The iden tification of the epigenetic factors involved in the genesis of autism allows a better understanding of the molecular mechanisms involved. Our objective was to analyze the epigenetic mechanisms related to the development of autism, specifying specific entities and their pathophysiological mechanisms. We analyze how DNA methylation disorders, histone modification, remodeling and chromosomal regulation mediated by non-coding RNA are related to various genetic syndromes such as fragile X, Rett, Pathias Mecp2, Phelam McDermid, prenatal toxins such as alcohol, valproic. acid, cannabis, and environmental toxins such as maternal stress, all associated with a higher prevalence of autism. In conclusion: the recognition of these mechanisms opens up new possibilities for preven tion and it is likely that, in genetic entities, it will allow the development of specific treatments with modifications tailored to each entity.

Palavras-chave : Autism; Epigenetics; Rett syndrome; Fragil X syndrome; Phelam McDermid syndrome; Fetal valpoic syndrome.

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