Vitamin D Supplementation Modulates Base Excision Repair (BER) Machinery in Systemic Sclerosis: A Prospective...

Area of Science:

• Immunology
• Genetics
• Nutritional Science

Background:

• Systemic sclerosis (SSc) is a fibrotic autoimmune disease characterized by immune dysregulation and vascular issues.
• Oxidative stress and impaired DNA repair are implicated in SSc pathogenesis, but vitamin D's role is unclear.

Purpose of the Study:

• To investigate DNA repair enzyme expression in SSc patients.
• To explore the relationship between vitamin D status and DNA repair.
• To assess vitamin D supplementation's effect on DNA repair enzyme expression.

Main Methods:

• Analyzed gene expression of base excision repair (BER) enzymes (APE1, OGG1) and nucleotide excision repair (NER) enzymes (XPA, XPC) in SSc patients and healthy controls.
• Measured serum vitamin D levels and correlated them with disease activity.
• Evaluated DNA repair capacity pre- and post-six months of vitamin D supplementation in SSc patients.

Main Results:

• SSc patients showed significantly lower baseline expression of BER enzymes (APE1, OGG1) compared to controls; NER gene expression was unchanged.
• Vitamin D deficiency was common in SSc and inversely correlated with disease severity.
• Vitamin D supplementation increased serum vitamin D levels and up-regulated APE1 and OGG1 expression, while NER genes remained unaffected.

Conclusions:

• SSc patients exhibit reduced transcription of BER enzymes, associated with vitamin D deficiency.
• Restoring vitamin D levels partially rescues BER enzyme expression, suggesting a link between vitamin D, genomic stability, and SSc.
• Vitamin D optimization may be a viable adjunctive strategy to enhance DNA repair and mitigate SSc progression.