Alterations in the Autism Signaling Pathway: Molecular Mechanisms, Environmental Factors, and Therapeutic Approaches

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that is characterized by deficits in social communication, repetitive behaviors, and restricted interest patterns. At the molecular level, ASD is associated with alterations in multiple signaling pathways that affect synaptic plasticity, mitochondrial function, neuroinflammation, and neurotransmitter modulation. Mutations in key genes such as MECP2, PTCH1, TSC1/TSC2, FMR1 and WNT have been identified, which play a fundamental role in the regulation of neurodevelopment. In addition, hyperactivation of the mTORC1 pathway, imbalances in brain-derived neurotrophic factor (BDNF) signaling, and dysfunctions in the microbiota-gut-brain axis have been implicated in the pathophysiology of ASD. Environmental factors, including prenatal exposure to heavy metals, maternal inflammation, and the use of antidepressants during pregnancy, can modulate gene expression and contribute to the development of the disorder. This article reviews in depth the molecular mechanisms underlying ASD, the interaction between genetic and environmental factors, and the possible therapeutic strategies aimed at modulating these biological alterations.