Neurofibromatosis Type 2 (NF2)
Neurofibromatosis type 2 (NF2) is a hereditary condition characterized by the formation of multiple schwannomas in the nervous system. Individuals with NF2 often develop tumors in the cranial nerves, spinal cord, and other areas of the central and peripheral nervous system. The NF2 gene, located on chromosome 22, codes for the protein Merlin, which acts as a tumor suppressor. Our company offers comprehensive services in NF2 drug and therapy development, ranging from target identification and drug discovery to preclinical testing.
Overview of Neurofibromatosis Type 2
Neurofibromatosis type 2 (NF2) is a rare genetic disease that affects approximately 1 in 60,000 people and is characterized by the development of massive tumors of the nervous system, primarily affecting central and peripheral nerves. The underlying cause of NF2 can be attributed to mutations in the NF2 gene, responsible for encoding the protein merlin. Schwannomas, the characteristic tumors associated with NF2, originate from Schwann cells that normally provide protective covering to the nerves.
Fig.1 Molecular pathogenesis of NF2. (Tamura, Ryota., 2021)Merlin plays a crucial role in regulating various signaling pathways that govern cell growth and proliferation, including the ErbB receptor family, the Ras-Raf-MAPK/ERK pathway, and the PI3K-Akt-mTOR pathway. Dysregulation of these pathways disrupts the normal control mechanisms, resulting in uncontrolled cell proliferation and the formation of tumors in Schwann cells.
Targets of Neurofibromatosis Type 2 Therapy Development
Targeting specific molecules and signaling pathways implicated in NF2 pathogenesis is a promising approach for drug and therapy development. Some potential targets include:
- Her-2
- EGFR
- mTOR
- IGF-I
- PDGFR
- IGFIR
- c-KIT
- HSP90
Types of Neurofibromatosis Type 2 Therapy Development
- Small Molecule Therapies
There are drug compounds designed to specifically target molecules or pathways involved in NF2 pathogenesis. Examples include Her-2 inhibitors, EGFR antagonists, mTOR inhibitors, and PDGFR/IGFIR inhibitors.
- Immunotherapies
Immunotherapeutic strategies, including immune checkpoint inhibitors and CAR-T cell therapy, are actively under investigation for their potential to harness the immune system and specifically target NF2 tumors. These approaches aim to bolster the body's innate defenses against tumor cells, thereby enhancing the immune response and potentially leading to the elimination of NF2 tumors.
- Gene Therapies
Gene therapy strategies are being investigated to address NF2 by introducing functional versions of the NF2 gene to restore the expression and function of the merlin protein in affected cells. By correcting the underlying genetic defect, gene therapy may provide a potential avenue for treating NF2 at its root cause.
Our Services
At our company, we are committed to advancing the field of NF2 diagnostics and therapy development. We utilize cutting-edge technologies and expertise to identify and validate potential therapeutic targets in NF2.
Our NF2 Therapy Development Platforms
To ensure high-quality model development and rigorous characterization of tumor growth and response to therapies, we provide customized animal model development services for NF2 drug research. Our experienced team can develop genetically engineered mouse models, xenograft models, or PDX models to suit specific research needs. Our company conducts preclinical testing of potential NF2 therapeutics using in vitro and in vivo models. We perform comprehensive efficacy and safety evaluations, including pharmacokinetics studies and drug safety evaluation, to support the progression of promising drug candidates toward clinical trials.
NF2 Model Development
- Schwann cell Nf2 conditional knockout models
- Leptomeningeal cell Nf2 conditional knockout models
- Nf2-/- models
- Nf2+/- models
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Tamura, Ryota. "Current understanding of neurofibromatosis type 1, 2, and schwannomatosis." International journal of molecular sciences 22.11 (2021): 5850.
- Evans, DGareth R. "Neurofibromatosis type 2 (NF2): a clinical and molecular review." Orphanet journal of rare diseases 4.1 (2009): 1-11.
- Lim, Stephanie Hui-Su, et al. "Systemic therapy in neurofibromatosis type 2." Cancer treatment reviews 40.7 (2014): 857-861.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.