CANDLE Syndrome Research Services
Current CANDLE syndrome research efforts mainly address the etiologic mechanisms underlying the disease along with diagnostic methods and therapeutic approaches. Our expertise allows researchers to thoroughly explore pathogenesis and identify potential therapeutic targets so new therapies can be developed.
What Is CANDLE Syndrome?
CANDLE syndrome (chronic atypical neutrophilic dermatosis with abnormal lipid metabolism and fever) is a rare inherited autoinflammatory disease characterized by recurrent episodes of autoinflammation, which are manifested by fever, skin lesions, joint pain, and muscle weakness. The disease is very rare.
Causes of CANDLE Syndrome
The cause of CANDLE Syndrome is primarily associated with mutations in the PSMB8 gene, which encodes a subunit of the proteasome, an important intracellular protein degradation system. When the PSMB8 gene is mutated, it leads to proteasome dysfunction, which causes the accumulation of specific proteins and triggers a systemic inflammatory response.
Figure 1. Structure of proteasomes. (Torrelo A., 2017)Diseases Associated with CANDLE Syndrome
Various proteasome disability syndromes
- CINCA syndrome
- Panniculitis-induced acquired generalized lipodystrophy
- Sweet syndrome
Diagnosis of CANDLE Syndrome
CANDLE syndrome is genetically and pathologically linked to a variety of autoinflammatory disorders, and the disease requires a comprehensive diagnosis in three ways:
- Clinical manifestations
- Genetic testing (PSMB8 gene mutation)
- Pathologic analysis
Treatment of CANDLE Syndrome
There is no cure for the disease, but JAK inhibitors have shown some efficacy in reducing symptoms.
Disclaimer: Protheragen specializes in providing preclinical research services. The above is for informational purposes only. For guidance on treatment options, please visit the regular hospital.
Our Services
Pathogenesis Analysis of CANDLE Syndrome
The type of pathogenesis analysis we support:
- Proteasome-immunoproteasome dysfunction
- Interferon-mediated inflammatory response
- Genetic heterogeneity
We are committed to helping researchers clarify the specific effects of different gene mutations on the disease process, so as to deeply analyze the pathological mechanisms or develop more effective therapeutic strategies.
Functional Analysis of Proteasome
Our methods for analyzing proteasome function include:
- Proteasome activity assays
- Proteasome structure analysis
- Proteasome inhibitor screening
- Isolation and purification of proteasome complexes
- Analysis of factors influencing proteasome activity
- Cytologic study of proteasome function
Our proteasome functional analysis methods include fluorescent substrate method, mass spectrometry, cryo-electron microscopy, immunoprecipitation, and computational prediction. These methods can reveal the structure and function of proteasome and its mechanism of action in cells from different angles.
Diagnostic Development Services for CANDLE Syndrome
Our genetic diagnostic methods include:
- Sanger Sequencing
- Whole Exome Sequencing (WES)
- Whole Genome Sequencing (WGS)
- Single Gene Sequencing
Our biomarker development categories include:
- Autoantibody Biomarkers
- Cytokine Biomarkers
- MicroRNA Biomarkers
- Lymphocyte Biomarkers
Our diagnostic kit development categories include:
- Autoantibody Test Kits
- Complement Test Kits
- Inflammatory Marker Test Kits
Due to the genetic heterogeneity and diagnostic complexity of CANDLE syndrome, there is still a need to further optimize the testing process and expand the scope of testing. Protheragen is committed to using our technology to help researchers improve diagnostic accuracy, explore disease mechanisms, and develop targeted therapies.
Therapy Development Services for CANDLE Syndrome
Types of therapy development we support:
- Small Molecule Drug Development
- Therapeutic Antibody Development
- Cell Therapy Development
- Probiotics Therapy Development
- Gene Therapy Development
Therapeutic development for CANDLE syndrome faces multiple challenges such as rarity, pathologic complexity, limited therapeutic efficacy, lack of harmonized standards, scarce research resources, and unclear potential therapeutic targets. Protheragen provides multidisciplinary collaborative research services in genetics and immunology to help researchers further understand disease mechanisms and develop more effective therapies.
Reference
- Torrelo A. CANDLE Syndrome as a Paradigm of Proteasome-Related Autoinflammation. Front Immunol. 2017; 8:927.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.