Biological pathogenesis, signaling pathways, and therapeutic targets of neurofibromatosis type 1

Yiyi Wang

doi:10.1117/12.3013163

8 January 2024 Biological pathogenesis, signaling pathways, and therapeutic targets of neurofibromatosis type 1

Yiyi Wang

Proceedings Volume 12924, Third International Conference on Biological Engineering and Medical Science (ICBioMed2023); 129240S (2024) https://doi.org/10.1117/12.3013163
Event: 3rd International Conference on Biological Engineering and Medical Science (ICBioMed2023), 2023, ONLINE, United Kingdom

Abstract

The genetic condition neurofibromatosis type 1 (NF-1) shows several different clinical presentations. The cause of the disease is the deletion and mutation of the NF1 tumor suppressor gene, which codes for mutated neurofibromin. The mutation of neurofibromin leads to a decrease in its activity of GAP, thereby promoting the activation of several downstream pathways. The two important downstream pathways of mutant NF1 are RAS/MAPK and Akt/mTOR, which play a critical role in cell growth and survival. The activation of these cellular cascades promotes cell proliferation and migration, further leading to neurofibromatosis type 1. Here we focus on the clinical features of neurofibromatosis type 1 and its mechanism of it. Further, we discuss the function and dysfunction of neurofibromin which shows a critical role in the progression of NF-1. Also, we display the downstream pathway of mutant neurofibromin. Importantly, we focus on the clinical application of neurofibromin as the potential therapeutic target of NF-1.

(2024) Published by SPIE. Downloading of the abstract is permitted for personal use only.

Citation Download Citation

Yiyi Wang "Biological pathogenesis, signaling pathways, and therapeutic targets of neurofibromatosis type 1", Proc. SPIE 12924, Third International Conference on Biological Engineering and Medical Science (ICBioMed2023), 129240S (8 January 2024); https://doi.org/10.1117/12.3013163

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