Study of autism types reveals common underlying mechanism

Neurons in the brain

An analysis of how brains with different forms of autism develop has revealed common underlying mechanisms that may respond to existing medications.

For the study, Rutgers Health researchers used induced pluripotent stem cells to transform the blood cells of people with both genetic and idiopathic autism spectrum disorder (ASD) into early brain cells called neural precursor cells.

As the precursor cells from both groups matured in the lab, defects in a common signalling pathway that controls structural proteins led them to struggle with an important step in cell differentiation, the growth of neurites, and the cell migration needed for proper brain architecture.

Although some cell lines exhibited too much activity in this mTOR pathway, while others exhibited too little, the researchers could correct both problems and spur better cell differentiation with existing drugs that either stimulate or inhibit the activity of mTOR (mechanistic target of rapamycin).

Emanuel DiCicco-Bloom, Professor of Neuroscience and Cell Biology/Pediatrics at Robert Wood Johnson Medical School and senior author of the study in eLife, said: “This finding is particularly interesting because the process of growing new synaptic spines when people learn things is completely analogous to the processes we observed in the cells we used for this experiment: growing axons and migrating during foetal development.

“So even though this experiment mimicked a process you’d see during early to mid-pregnancy, the same process involving structural proteins is happening right now in you and me, which means that if we took cells from people with autism and found this abnormal regulation of mTOR in their cells in a dish, those people might be candidates as adults for mTOR regulating drugs to improve their function.”

Diana Spencer, Senior Digital Content Editor, DDW

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