Neurofibromatosis type one (NF1) is one of the most common genetic conditions affecting 1 in 3000 people. 95% of NF1 patients have cutaneous nerve neurofibromas, benign tumors that grow under the skin and appear as bumps. 50% have plexiform neurofibromas, tumors that form in the tissue of NF1 patients. These are typically benign, but some do become cancerous. 20% of patients have optic pathway gliomas (OPGs), which are brain tumors growing on the optic nerve. The Charlton-Perkins lab wants to investigate these tumors further and understand the causes more clearly. Due to the conditional knockout approach used in mice, which only removes the NF1 gene in the peripheral nervous system, there are currently no published animal models that develop OPGs. The C-P lab has developed a Zebrafish model that produces central and peripheral nervous system tumors, including optic gliomas. H&E staining has allowed us to identify and stage tumors. Through H&E, we can see the differences between tissue shapes and cell numbers in the NF1 and control Zebrafish. Immunofluorescence staining using BLBP and Ki67 has allowed us to characterize the tumors further. Specifically, these antibodies helped us view the glial and dividing cells within the tissue of the Zebrafish. This new model of NF1 will help further investigate the impacts of other genes on the different tumor types in NF1 patients. This experience has deepened my interest and understanding of NF1, the central nervous system, cellular function, and pathology methods. With intentions to enter the medical field, this work in the C-P lab will greatly help me with my future endeavors.
Author(s): Caiden Duskey, Benjamin Callaway, Isabella Klapwijk, Aiden Kraan, Mark Charlton-Perkins
Advisor(s): Mark Charlton-Perkins, Biology
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