The relationship between defects in DNA repair genes and autoinflammatory diseases

Kivanc D., Dasdemir S.

RHEUMATOLOGY INTERNATIONAL, cilt.42, sa.1, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 42 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1007/s00296-021-04906-3
  • Dergi Adı: RHEUMATOLOGY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: Autoinflammatory disease, DNA damage, DNA repair genes, Immune system, AICARDI-GOUTIERES-SYNDROME, CYCLIC GMP-AMP, NF-KAPPA-B, I INTERFERON, MOLECULAR-MECHANISMS, EXONUCLEASE TREX1, INFLAMMASOME ACTIVATION, DAMAGE, MUTATIONS, SAMHD1
  • İstanbul Üniversitesi Adresli: Evet

Özet

Tissue inflammation and damage with the abnormal and overactivation of innate immune system results with the development of a hereditary disease group of autoinflammatory diseases. Multiple numbers of DNA damage develop with the continuous exposure to endogenous and exogenous genotoxic effects, and these damages are repaired through the DNA damage response governed by the genes involved in the DNA repair mechanisms, and proteins of these genes. Studies showed that DNA damage might trigger the innate immune response through nuclear DNA accumulation in the cytoplasm, and through chronic DNA damage response which signals itself and/or by micronucleus. The aim of the present review is to identify the effect of mutation that occurred in DNA repair genes on development of DNA damage response and autoinflammatory diseases.