Editorial: Mitochondrial Gene Variations Increase Autism Risk: Uncovering the Complex Polygenetic Landscape of Autism

Autism spectrum disorder (ASD) is a behaviorally defined disorder with a complex, mostly unknown, etiology. Although many neurodevelopmental genetic disorders are associated with ASD, single gene mutations and copy number variations do not account for the majority of ASD cases. In fact, when found, genetic alterations are usually de novo rather than inherited.¹ Scientists are starting to consider polygenetic influences in the etiology of ASD whereby changes in multiple genes might add up to a threshold that disrupts cellular pathways. Further studies have implicated many environmental factors, particularly the prenatal maternal environment, suggesting that many cases of ASD might be associated with complex interactions between polygenetic predisposition and environmental factors.².