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The relationship between cell apoptosis dysfunction and FEN1 E160D mutation in lupus nephritis patients
Jing Wang1, Ping Cao2, Yuan-Yuan Qi1
1a Department of Nephropathy , Lanzhou University Second Hospital , Lanzhou , PR China.
Autoimmunity
|December 15, 2017
Summary
Cell apoptosis dysfunction is key in lupus nephritis (LN) pathogenesis, showing a positive correlation with disease activity. While the FEN1 E160D mutation was analyzed, no significant difference was found between LN patients and healthy individuals, warranting further research.
Area of Science:
- Nephrology
- Immunology
- Genetics
Background:
- Lupus nephritis (LN) is a severe complication of systemic lupus erythematosus, characterized by kidney inflammation and potential organ damage.
- Cell apoptosis dysfunction has been implicated in the pathogenesis of various autoimmune diseases, including LN.
- The role of specific genetic mutations, such as in the FEN1 gene, in LN pathogenesis requires further elucidation.
Purpose of the Study:
- To investigate the role of the FEN1 E160D mutation in patients with lupus nephritis (LN) and associated cell apoptosis dysfunction.
- To assess the correlation between disease activity in LN patients and the apoptotic index in renal tissues.
- To analyze genetic variations in the FEN1 gene in LN patients compared to a control group.
Main Methods:
- TUNEL assay was used to detect cell apoptosis in renal biopsies from 50 Class IV LN patients.
- Correlation analysis was performed between the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI 2000) and the apoptotic index (AI).
- Genomic DNA from peripheral blood of 50 LN patients and 25 healthy controls was analyzed for FEN1 gene mutations (61563142-61563342).
Main Results:
- Cell apoptosis was detected in all evaluated LN patients.
- A significant positive correlation was observed between SLEDAI 2000 scores and the apoptotic index (AI) in renal tissue (r=0.39, p=0.032).
- Specific mutations within the FEN1 gene (61563142-61563342) were identified, but no statistically significant difference was found in their prevalence between LN patients and healthy individuals.
Conclusions:
- Cell apoptosis dysfunction plays a critical role in the pathogenesis of lupus nephritis.
- While the FEN1 E160D mutation was investigated, its direct association with LN in this study was not statistically significant.
- Larger sample sizes and genome-wide association studies are recommended to further explore the genetic underpinnings of LN.
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