Version 1
: Received: 7 May 2024 / Approved: 7 May 2024 / Online: 7 May 2024 (14:05:49 CEST)
How to cite:
Kim, B.-H.; Chung, Y.-H.; Woo, T.-G.; Kang, S.-M.; Park, S.; Kim, M.; Park, B.-J. Neurofibromatosis Type 2 (NF2): Molecular Insights and Therapeutic Avenues. Preprints2024, 2024050384. https://doi.org/10.20944/preprints202405.0384.v1
Kim, B.-H.; Chung, Y.-H.; Woo, T.-G.; Kang, S.-M.; Park, S.; Kim, M.; Park, B.-J. Neurofibromatosis Type 2 (NF2): Molecular Insights and Therapeutic Avenues. Preprints 2024, 2024050384. https://doi.org/10.20944/preprints202405.0384.v1
Kim, B.-H.; Chung, Y.-H.; Woo, T.-G.; Kang, S.-M.; Park, S.; Kim, M.; Park, B.-J. Neurofibromatosis Type 2 (NF2): Molecular Insights and Therapeutic Avenues. Preprints2024, 2024050384. https://doi.org/10.20944/preprints202405.0384.v1
APA Style
Kim, B. H., Chung, Y. H., Woo, T. G., Kang, S. M., Park, S., Kim, M., & Park, B. J. (2024). Neurofibromatosis Type 2 (NF2): Molecular Insights and Therapeutic Avenues. Preprints. https://doi.org/10.20944/preprints202405.0384.v1
Chicago/Turabian Style
Kim, B., Minju Kim and Bum-Joon Park. 2024 "Neurofibromatosis Type 2 (NF2): Molecular Insights and Therapeutic Avenues" Preprints. https://doi.org/10.20944/preprints202405.0384.v1
Abstract
Neurofibromatosis type 2 (NF2) is a genetic syndrome characterized by the growth of benign tumors in the nervous system, particularly bilateral vestibular schwannomas, meningiomas, and ependymomas. This review consolidates the current knowledge on NF2 syndrome, emphasizing the molecular pathology associated with the mutations in the gene of the same name, the NF2 gene, and the subsequent dysfunction of its product, the Merlin protein. Merlin, a tumor suppressor, integrates multiple signaling pathways that regulate cell contact, proliferation, and motility, thereby influencing tumor growth. The loss of Merlin disrupts these pathways, leading to tumorigenesis. We discuss the roles of another two proteins potentially associated with NF2-deficiency as well as Merlin: Yes-associated protein 1 (YAP), which may promote tumor growth, and Raf kinase inhibitory protein (RKIP), which appears to suppress tumor development. Additionally, this review discusses the efficacy of various treatments, such as molecular therapies that target specific pathways or inhibit neomorphic protein-protein interaction caused by NF2-deficiency. This overview not only expands on the fundamental understanding of NF2 pathophysiology but also explores the potential of novel therapeutic targets that affect the clinical approach to NF2 syndrome.
Keywords
NF2, Neurofibromatosis type 2; Merlin; YAP, Yes-associated protein 1; RKIP, Raf kinase inhibitory protein; PPI, protein-protein interaction
Subject
Biology and Life Sciences, Biochemistry and Molecular Biology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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