mRNA in the development of autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction, communication, and restricted and repetitive behavior patterns. This disorder can be detected from an early age through warning signs such as lack of response to social stimuli, language difficulties and limited behaviors. In addition, it has a high comorbidity with other disorders, such as sleep problems, gastrointestinal disturbances, and epilepsy, which complicate its diagnosis and treatment [1,2].

Analysing it from a genetic perspective, it has been identified that ASD has an approximate heritability of 80%, involving more than 1000 genes. These include CHD8 and FMR1, which play fundamental roles in neurogenesis, cognitive development, and synaptic plasticity. Mutations in these genes affect the balance between excitatory and inhibitory neurons, resulting in synaptic alterations that contribute to the development of ASD [3-5].

At the epigenetic level, DNA methylation regulates the expression of these genes. This process involves the addition of methyl groups to specific regions of the DNA, affecting its transcriptional activity. Alterations in this mechanism can contribute to deficits in neuronal plasticity, memory and learning processes, all of which are essential for normal brain development [6,7].

MicroRNAs (miRNAs) also play a crucial role in the regulation of post-transcriptional gene expression. These molecules modulate the translation of essential synaptic proteins and are involved in neuronal plasticity. Its dysregulation could amplify the effects of mutations in genes such as CHD8 and FMR1, aggravating the clinical manifestations of ASD [8,9].

Therefore, ASD results from a complex interaction between genetic and epigenetic factors. The CHD8 and FMR1 genes, along with processes such as DNA methylation and microRNA regulation, are key pieces to understanding their etiology. The integration of this knowledge may open up new opportunities to develop targeted therapies that improve patients' prognosis [3,10]