Conceptualizing Epigenetics and the Environmental Landscape of Autism Spectrum Disorders

Genes (Basel). 2023 Aug 30;14(9):1734. doi: 10.3390/genes14091734.


Complex interactions between gene variants and environmental risk factors underlie the pathophysiological pathways in major psychiatric disorders. Autism Spectrum Disorder is a neuropsychiatric condition in which susceptible alleles along with epigenetic states contribute to the mutational landscape of the ailing brain. The present work reviews recent evolutionary, molecular, and epigenetic mechanisms potentially linked to the etiology of autism. First, we present a clinical vignette to describe clusters of maladaptive behaviors frequently diagnosed in autistic patients. Next, we microdissect brain regions pertinent to the nosology of autism, as well as cell networks from the bilateral body plan. Lastly, we catalog a number of pathogenic environments associated with disease risk factors. This set of perspectives provides emerging insights into the dynamic interplay between epigenetic and environmental variation in the development of Autism Spectrum Disorders.

Keywords: alleles; brain; disease; epigenetics; evolution; gastrointestinal tract; genes; mutations; phenotypes.

Publication types

  • Review

MeSH terms

  • Alleles
  • Autism Spectrum Disorder* / genetics
  • Autistic Disorder*
  • Biological Evolution
  • Epigenesis, Genetic
  • Humans

Grants and funding

This research received no external funding.