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Published on: June 26, 2020
Expression of double strand DNA breaks repair genes in pterygium
Anna Lękawa-Ilczuk1, Halina Antosz, Beata Rymgayłło-Jankowska
1Department of Human Genetics, Medical University, Lublin, Poland. annalekawa@wp.pl
Purpose:
The alteration in the expression of some genes and proteins responsible for chosen DNA repair pathways in pterygium pathogenesis were studied. This study was focused on the examination of the expression of genes and RAD50 protein taking part in homologous recombination.
Methods:
Peripheral blood lymphocytes, samples of pterygium tissue, samples of conjunctiva of patients suffering from pterygium as well as peripheral blood lymphocytes and conjunctiva of patients from the control group were examined. In order to identify genes products from RNA, Ribonuclease Protection Assai method was applied. LIM15, RAD50, RAD54, RAD52, MRE11, XRCC2, XRCC3, RAD51, RAD51B, RAD51C, RAD51D genes transcripts were detected. Expression of RAD50 protein was analyzed immunohistochemically.
Results:
Peripheral blood lymphocytes analyses revealed lower level of RAD50 gene expression in the pterygium patients compared to the control group and the increased expression of XRCC2, XRCC3 and RAD51 genes in patients with pterygium, who declared the recurrence of the lesion in comparison to the patients with primary pterygium. Lower expression of the RAD54 gene in pterygium tissue comparing to conjunctiva from the eyes with pterygium was found. An expression of RAD50 gene in the conjunctiva originating from eyes with pterygium in comparison to the conjunctiva of control group was shown to be considerably higher. Expression of RAD50 protein in pterygium squamous epithelial cells was significantly higher than in conjunctiva from control group.
Conclusion:
There may exist a relationship between pterygium pathogenesis and damages of double strand DNA, however, the elucidation of its exact nature needs further study.
Insights
Pterygium pathogenesis may involve DNA repair gene alterations. RAD50 protein expression was higher in pterygium tissues, while some DNA repair genes showed altered expression in patients, suggesting a link to double-strand DNA damage.
Area of Science:
- Ophthalmology
- Molecular Biology
- Genetics
Background:
- Pterygium is a degenerative eye condition.
- DNA repair pathways are crucial for maintaining genomic stability.
- Alterations in DNA repair genes may contribute to pterygium development.
Purpose of the Study:
- To investigate the expression of genes and RAD50 protein involved in homologous recombination in pterygium.
- To explore the role of DNA repair mechanisms in pterygium pathogenesis.
Main Methods:
- Examined gene and RAD50 protein expression in pterygium tissues, conjunctiva, and blood lymphocytes from patients and controls.
- Utilized Ribonuclease Protection Assay to detect gene transcripts.
- Employed immunohistochemistry to analyze RAD50 protein expression.
Main Results:
- RAD50 gene expression was lower in peripheral blood lymphocytes of pterygium patients but higher in conjunctiva and pterygium tissues compared to controls.
- Increased expression of XRCC2, XRCC3, and RAD51 genes was observed in recurrent pterygium cases.
- RAD54 gene expression was lower in pterygium tissue than in conjunctiva from affected eyes.
Conclusions:
- The study suggests a potential association between pterygium pathogenesis and double-strand DNA damage.
- Further research is needed to fully elucidate the precise nature of this relationship.
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