Shared and unique gene expression in systemic lupus erythematosus depending on disease activity
Paula Sandrin-Garcia1, Cristina Moraes Junta, Ana L Fachin
1Molecular Immunogenetics Group (Department of Genetics), Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
Annals of the New York Academy of Sciences
|September 18, 2009
Summary
Active and inactive systemic lupus erythematosus (SLE) show distinct gene expression profiles in peripheral blood lymphocytes. This study identified common and unique differentially expressed genes, offering insights into SLE pathogenesis.
Area of Science:
- Immunology
- Genomics
- Molecular Biology
Background:
- Systemic lupus erythematosus (SLE) is an autoimmune disease with varying clinical manifestations.
- Active SLE may present distinct pathogenetic features compared to inactive SLE.
- Gene expression profiling can potentially differentiate disease variants.
Purpose of the Study:
- To evaluate the gene expression profile of 4500 genes in peripheral blood lymphocytes (PBL) of SLE patients.
- To compare gene expression patterns between active SLE, inactive SLE, and healthy controls.
- To identify differentially expressed genes in SLE variants for understanding molecular basis.
Main Methods:
- Peripheral blood lymphocytes (PBL) were collected from 11 SLE patients (7 active, 4 inactive) and 8 healthy controls.
- cDNA microarrays were used to analyze the expression of 4500 genes.
- Gene expression data were analyzed using R environment with ANOVA and SAM algorithms; disease activity was assessed by SLEDAI.
Main Results:
- 104 genes were differentially expressed in active SLE patients compared to controls (80 repressed, 24 induced).
- 52 genes were differentially expressed in inactive SLE patients compared to controls (31 induced, 21 repressed).
- 12 genes showed differential expression in both SLE variants, with unique gene modulations present in each variant.
Conclusions:
- Active and inactive SLE exhibit distinct, yet overlapping, gene expression profiles in PBL.
- Common and unique differentially expressed genes were identified between SLE variants.
- These findings provide a foundation for further research into the molecular mechanisms of immune dysregulation in SLE.
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:58Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
01:58Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:21EPS and iPS Cells in Disease Research
Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
01:20The JAK-STAT Signaling Pathway
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...