Muckle-Wells Syndrome (MWS)
Muckle-Wells syndrome (MWS) is a rare autosomal dominant genetic disorder. At our company, we are dedicated to advancing the forefront of MWS management through state-of-the-art diagnostics and therapeutics. As your trusted ally in MWS research, we provide efficient and all-encompassing solutions to cater to your every scientific research need.
Overview of Muckle-Wells Syndrome
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder that falls under the category of cryopyrin-associated periodic syndromes (CAPS). It is characterized by recurrent episodes of fever, rash, joint pain, and other systemic symptoms. The incidence of Muckle-Wells syndrome is currently unknown.
Fig. 1 NLRP3 inflammasome activation. (Nakanishi, Hiroshi, et al., 2020)Pathogenesis of Muckle-Wells Syndrome
Muckle-Wells Syndrome is caused by mutations in the CIAS1/NLRP3 gene, also known as the NLRP3 inflammasome gene.
NLRP3 Gene
The NLRP3 gene provides instructions for producing the NLRP3 protein, which is a key component of the inflammasome complex. The inflammasome plays a crucial role in the regulation of the body's inflammatory responses.
Inflammasome Activation
Mutations in the NLRP3 gene result in persistent activation of the NLRP3 inflammasome, causing unregulated release of IL-1β. Prolonged elevation of IL-1β induces systemic inflammatory reactions, including fever, arthritis, and general discomfort.
Therapeutics of Muckle-Wells Syndrome
Therapeutics of Muckle-Wells syndrome (MWS) primarily involves modulating the NLRP3 inflammasome and inhibiting IL-1β release, thereby alleviating the systemic inflammatory manifestations of MWS. Currently, several therapeutic drugs for MWS have been developed.
| Drug Name | Description |
| Canakinumab | Canakinumab is a monoclonal antibody that specifically targets IL-1β. It has been approved for the therapeutics of MWS and has shown significant efficacy in reducing symptom severity and improving quality of life in individuals with MWS. |
| MCC950 | MCC950 is a small molecule inhibitor that targets the NLRP3 inflammasome. Preclinical studies have demonstrated its ability to attenuate the inflammatory response associated with MWS by blocking the activation of the NLRP3 inflammasome. |
| Rilonacept | Rilonacept is another IL-1 inhibitor that has shown efficacy in reducing disease flares and symptoms in MWS individuals. It acts by binding to IL-1β and preventing its interaction with its receptor, thereby reducing the inflammatory response. |
| Anakinra | Anakinra is an IL-1 receptor antagonist that competitively inhibits the binding of IL-1β to its receptor. While it has shown efficacy in other autoinflammatory disorders, its effectiveness in MWS is still being evaluated. |
Our Services
Drawing upon our deep expertise in biotechnology and extensive experience in the industry, our company offers all-encompassing solutions for diagnostic and therapeutic research dedicated to Muckle-Wells syndrome.
- Diagnostic Development Services: For rare genetic diseases such as Muckle-Wells syndrome, our company offers diagnostic development services. We are committed to assisting you in developing advanced diagnostic tools for Muckle-Wells syndrome to ensure accurate and timely detection.
- Therapeutic Development Services: We provide cutting-edge technology platforms for the development of small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein, which enables us to contribute to the therapeutics of Muckle-Wells syndrome.
- Animal Model Development Service: To support the preclinical research and development of Muckle-Wells syndrome therapeutics, we offer animal models development services to facilitate your pharmacokinetics study and drug safety evaluation.
| Induced Models | ||
| The induced model is a commonly used model of Muckle-Wells syndrome (MWS). Our scientists inject bacterial components such as lipopolysaccharide (LPS) or other pathogen-associated molecular patterns (PAMPs) into animals to stimulate the release of pro-inflammatory cytokines and activate the NLRP3 inflammasome. This induced model of inflammation provides insight into the dysregulated immune response in MWS. | ||
| Genetically Engineered Models | ||
| In Muckle-Wells syndrome (MWS), mutations in the CIAS1/NLRP3 gene lead to dysregulated activation of the NLRP3 inflammasome. Our scientists have successfully constructed transgenic models and gene knockout models of MWS through advanced genetic engineering technology. These models are valuable tools for studying the genetic basis and pathogenesis of MWS. | ||
| Optional Models |
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| Optional Species | Mice, Rats, Zebrafish, Rabbits, Non-human Primates, Others | |
No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.
References
- Nakanishi, Hiroshi, et al. "Genetic hearing loss associated with autoinflammation." Frontiers in Neurology 11 (2020): 141.
- Liu, Jia, et al. "Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature." Pediatric Rheumatology 21.1 (2023): 15.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.