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Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumors along nerves in the skin, brain, spinal cord, and other areas of the body. It also increases risk for cognitive and behavioral conditions such as attention-deficit/hyperactivity disorder and autism spectrum disorder. How this happens is unclear.
Research by Seth Tomchik, PhD, professor in the Department of Neuroscience and Pharmacology and associate director for research training and development at the Iowa Neuroscience Institute, has found that the genetic mutations that drives NF1 alter how the brain functions. The mutations reduce levels of the protein neurofibromin, which alters signaling pathways and neuronal activity that can lead to cognitive and behavioral dysfunction.
In his lab, Tomchik and his research colleagues map the changes in signaling activity in neurons to better understand the molecular basis of the behavioral impacts of NF1, with the goal of providing targets for future treatments. Recent research results from the lab have pinpointed how two major signaling pathways function in neurons to regulate behavior and metabolism, as well as how these pathways function in both neurons and muscle — providing insight into NF1 disease mechanisms. The signaling pathways affected in NF1 are involved in other conditions, including cancer. As such, the Tomchik lab’s work could influence how scientists think about development and aging as well as cancer biology.
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This image shows fluorescently labeled neuromuscular junctions, with motor neurons labeled in cyan, muscle fibers labeled in magenta, and muscle nuclei labeled in yellow. This helps researchers' study how genetic disorders such as NF1 affect neurons, muscle, and systemic metabolism. Alterations of molecular signaling cascades in these tissues influence the pathophysiology of the disorder and represent targets for potential therapies.