South Middlesex Times

A recent study conducted by Rutgers Health researchers has uncovered common underlying mechanisms in different forms of autism that may respond to existing medications. The research utilized induced pluripotent stem cells to analyze the development of brains in individuals with genetic and unexplained autism spectrum disorder (ASD).

Emanuel DiCicco-Bloom, a professor of neuroscience and cell biology/pediatrics at Robert Wood Johnson Medical School and senior author of the study, highlighted the significance of the findings, stating, “Cells in a dish are not fully human cells that have developed in a fetus and functioned in a person, but they are a lot closer than mouse cells.” He further explained the resemblance between the observed processes in the study and the growth of new synaptic spines during learning, emphasizing the potential for utilizing drugs that regulate the mTOR pathway to improve brain function in individuals with autism.

The study revealed abnormalities in the mTOR pathway, which plays a crucial role in regulating various functions in neuron development, in both genetic and idiopathic cases of ASD. By using existing medications that target the mTOR pathway, researchers were able to stimulate normal development in the neural precursor cells of individuals with ASD.

Lead author of the study, Smrithi Prem, noted that the research connected the mTOR pathway with genes in the 16p11.2 area, as well as with different types of idiopathic autism. Prem emphasized the importance of considering individual differences in mTOR dysregulation, stating, “Our findings showed that cells from two of the people we studied needed more mTOR, not less, and that may spur trials that give different types of mTOR treatment to different individual patients.”

The study team has initiated a follow-up investigation to explore if individuals with ASD stemming from other genetic causes exhibit similar disruptions in mTOR activity during development. The potential for utilizing tests of mTOR function to aid in accurate diagnosis and differentiation of ASD from other conditions with similar effects is being considered based on the study's findings.

The research sheds light on a promising avenue for the development of personalized treatment approaches for individuals with autism spectrum disorder, by targeting the shared mechanism identified in different types of the condition.