Vitiligo
Conditions
Keywords
TRPM2, NLRP3, oxidative stress, inflammasome, genetic polymorphism
Brief summary
This study investigates the relationship between Transient Receptor Potential Melastatin 2 (TRPM2) gene polymorphism and Nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3) inflammasome expression in patients with vitiligo. Vitiligo is a common autoimmune depigmenting disorder characterized by melanocyte destruction associated with oxidative stress and immune dysregulation. TRPM2 is a calcium-permeable cation channel activated by oxidative stress, while NLRP3 inflammasome activation promotes inflammation through interleukin-1β (IL-1β) and interleukin-18 (IL-18) release. This study aims to evaluate TRPM2 genetic variants, NLRP3 expression levels, and their possible correlation with disease severity measured using the Vitiligo Area Scoring Index (VASI).
Detailed description
Vitiligo is a chronic autoimmune depigmenting disorder characterized by selective loss of melanocytes. Oxidative stress plays a central role in triggering melanocyte damage. Transient Receptor Potential Melastatin 2 (TRPM2) is a calcium-permeable cation channel activated by reactive oxygen species (ROS). Activation of TRPM2 leads to increased intracellular calcium (Ca2+) influx and mitochondrial dysfunction, contributing to melanocyte apoptosis. The Nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3) inflammasome is an intracellular multiprotein complex activated by cellular stress signals, including Ca2+ influx, ROS, and mitochondrial injury. NLRP3 activation results in caspase-1 activation and the release of pro-inflammatory cytokines interleukin-1β (IL-1β) and interleukin-18 (IL-18), which further contribute to melanocyte destruction. Evidence suggests an interaction between TRPM2 activation and NLRP3 inflammasome signaling, particularly under oxidative stress conditions. However, this relationship has not been studied in vitiligo patients. This study investigates TRPM2 gene polymorphism, evaluates NLRP3 expression levels, and explores their association with disease presence and severity.
Interventions
None listed
Sponsors
Aswan University
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
\- Adult patients (aged 18 years and older) clinically diagnosed with vitiligo, either newly diagnosed or not on treatment for at least 3 months before the study.
Exclusion criteria
* Any participant with associated inflammatory disease (such as infections or autoimmune disorders). * Patients with chronic diseases including cardiac, hepatic, hematologic, or renal disorders, or malignancies. * Patients who had recent major surgical procedures. * Patients with segmental vitiligo. * Vitiligo patients who have received treatment within 3 months prior to the study.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| TRPM2 gene polymorphism in vitiligo patients | At time of enrollment (single visit) | Assessment of TRPM2 gene polymorphism by SNP genotyping in blood samples from vitiligo patients and healthy controls. The frequency and distribution of TRPM2 variants will be compared between groups. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| NLRP3 inflammasome expression in vitiligo patients | At time of enrollment (single visit) | Quantification of NLRP3 inflammasome gene expression by real-time PCR (RT-qPCR) in peripheral blood of vitiligo patients and healthy controls. Expression levels will be compared between groups. |
| Correlation between TRPM2 polymorphism and NLRP3 inflammasome expression | At time of enrollment (single visit) | Correlation analysis between TRPM2 gene polymorphism and NLRP3 inflammasome expression among vitiligo patients to assess possible functional association. |
| Association between TRPM2 gene polymorphism and disease severity | At time of enrollment (single visit) | Comparison of TRPM2 gene polymorphism variants with vitiligo severity measured by Vitiligo Area Severity Index (VASI). The Vitiligo Area Scoring Index (VASI) is a validated tool used to quantify vitiligo severity. Scores range from 0 to 100, where higher scores indicate greater disease severity. Assessment is performed at a single study visit. |
Countries
Egypt
Outcome results
None listed