Investigating the relationship between multiple sclerosis and PARP-1 gene

Multiple Sclerosis (MS) is an important cause of disability in young adults. Most cases begin with relapsing remitting MS and can transition to secondary progressive MS over time. While there are various treatment options for relapses, the response to these treatments is very limited in to progressive group. It has been shown that the inflammatory status of the central nervous system also changes in progression. The pathogenesis of progression is thought to be different from that of attacks. Poly (ADP-ribose) polymerase-1 (PARP-1) is an enzyme involved in many cellular processes such as gene expression, cell death and DNA repair. In our study, we aimed to investigate the relationship between the MS and PARP-1 gene, which has been shown to be associated with autoimmune and autoinflammatory pathways. 123 MS patients and 168 healthy controls were included in the study. PARP-1 gene, rs1136410 missense polymorphism, rs7527192 promoter region polymorphism and rs8679 3'UTR polymorphism were studied by PCR-RFLP method. Genotype and allele frequency distributions were examined between the case-control groups and clinical subgroups. No significant relationship was found between rs1136410 and rs8679 and MS. rs7527192 polymorphism C genotype was found to be increased in SPMS patients compared to controls and it was statistically significant. It was determined that CC genotype increased in SPMS patients under the autosomal dominant genetic model. The CC genotype and C allele frequency were found to increase in EDSS score >3-6 group compared to healthy controls. The C allele frequency was increased in EDSS score >3-6 compared to those with ≤3 and ≥6. In conclusion; rs7527192 may be effective in the progression process by affecting PARP-1 expression. PARP-1 may be effective in progression by increasing the activity of the inflammasome pathway and its inhibitors may be a promising treatment option in SPMS.