Summary, originally published in CHOP News
In a new paper published in Scientific Reports, researchers at Children’s Hospital of Philadelphia (CHOP) have identified and characterized genetic pathways shared by epilepsy and autism spectrum disorder (ASD), two heterogenous brain disorders. Further exploration of the findings could lead to better, more personalized treatments for both conditions.
Epilepsy and ASD are two broad categories of brain disorders that overlap with surprising frequency. For example, some 30% of patients with ASD also have epilepsy, whereas the seizure disorder occurs in only 2-3% of the general population. While the reason for this overlap has not been identified, one hypothesis is that both conditions involve the disruption of shared neurodevelopmental pathways implicated by the relatively high number of genes associated with both disorders.
Certain biological pathways are involved in both disease processes, such as transcription regulation, cellular growth, and synaptic regulation, though the specific mechanisms involved are still unknown. Although previous studies have used network-based approaches to identify pathways and genes implicated in epilepsy and ASD, those studies have largely focused on protein-protein interactions or other types of biological networks in each condition in isolation, rather than examining how the conditions relate to one another. Prior studies also have not focused on networks based on gene-phenotype associations – that is, how the implicated genes relate to how the disease presents clinically.