Targeting epigenetic dysregulation in autism spectrum disorders

Trends Mol Med. 2024 Nov;30(11):1028-1046. doi: 10.1016/j.molmed.2024.06.004. Epub 2024 Jul 5.

Abstract

Autism spectrum disorders (ASD) comprise a range of neurodevelopmental pathologies characterized by deficits in social interaction and repetitive behaviors, collectively affecting almost 1% of the worldwide population. Deciphering the etiology of ASD has proven challenging due to the intricate interplay of genetic and environmental factors and the variety of molecular pathways affected. Epigenomic alterations have emerged as key players in ASD etiology. Their research has led to the identification of biomarkers for diagnosis and pinpointed specific gene targets for therapeutic interventions. This review examines the role of epigenetic alterations, resulting from both genetic and environmental influences, as a central causative factor in ASD, delving into its contribution to pathogenesis and treatment strategies.

Keywords: autism spectrum disorders; biomarkers; cerebral organoids; epigenetics; iPSC-derived models; intellectual disability; therapeutics.

MeSH terms

  • Animals
  • Autism Spectrum Disorder* / etiology
  • Autism Spectrum Disorder* / genetics
  • Autism Spectrum Disorder* / metabolism
  • Biomarkers
  • DNA Methylation
  • Epigenesis, Genetic*
  • Genetic Predisposition to Disease
  • Humans

Substances

  • Biomarkers